Understanding Anemia and Its Causes

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Questions and Answers

What is the underlying cause of anemia?

  • A genetic mutation affecting hemoglobin synthesis.
  • A symptom or sign of an underlying medical condition. (correct)
  • A disease characterized by excessive red blood cell production.
  • A direct result of iron overload in the body.

Which of the following defines anemia?

  • Elevated levels of iron in the blood.
  • Increased oxygen-carrying capacity of the blood.
  • Increase in the number of red blood cells.
  • Reduction in the number of red blood cells, hemoglobin concentration, or hematocrit. (correct)

Generally, what hemoglobin concentration in adult males suggests anemia?

  • Above 17 g/dL
  • Below 16 g/dL
  • Above 15 g/dL
  • Below 13.6 g/dL (correct)

Which population is most likely to be affected by iron deficiency anemia (IDA)?

<p>Young children and pregnant persons (D)</p> Signup and view all the answers

What is the most common cause of anemia in older adults?

<p>Anemia of chronic disease (B)</p> Signup and view all the answers

Which geographic area is most associated with sickle cell disease?

<p>The African continent (D)</p> Signup and view all the answers

What is a fundamental consequence of anemia due to hemoglobin deficiency?

<p>Inadequate oxygen being transported to the tissues (A)</p> Signup and view all the answers

Hypoproliferative anemia is a result of which of the following processes?

<p>Inadequate RBC production (C)</p> Signup and view all the answers

What is the primary role of erythropoietin in red blood cell production?

<p>To induce the differentiation of erythroid precursor cells. (C)</p> Signup and view all the answers

In adults, where is hematopoietic marrow primarily located?

<p>Lower skull, vertebrae, shoulder and pelvic structures, ribs, and sternum. (B)</p> Signup and view all the answers

Which of the following is a common symptom associated with chronic anemia due to slow blood loss?

<p>Insidious fatigue the body compensates for. (B)</p> Signup and view all the answers

What is the normal turnover rate for erythrocytes, under normal conditions?

<p>Approximately 1% per day. (D)</p> Signup and view all the answers

Which condition impairs red blood cell production by disrupting the bone marrow stem cells?

<p>Aplastic anemia. (D)</p> Signup and view all the answers

What is the approximate lifespan of circulating erythrocytes under normal conditions?

<p>100-120 days. (B)</p> Signup and view all the answers

What is the most important factor in the body’s ability to increase RBC production?

<p>Adequate Iron Stores. (A)</p> Signup and view all the answers

Which of the following factors is NOT essential for adequate RBC production?

<p>Regular strenuous exercise. (C)</p> Signup and view all the answers

Why might chronic kidney disease lead to anemia?

<p>Under-production of erythropoietin. (C)</p> Signup and view all the answers

Which observation on physical examination is MOST indicative of long-term, moderate to severe anemia?

<p>Spoon-shaped nails. (D)</p> Signup and view all the answers

Which condition is associated with increased destruction of red blood cells?

<p>G6PD (glucose-6-phosphate dehydrogenase) deficiency. (A)</p> Signup and view all the answers

A patient presents with fatigue, headache, and decreased exercise tolerance. Their hemoglobin concentration has declined gradually over several weeks. Which of the following factors is LEAST likely to be the cause of these symptoms?

<p>Vasoconstriction due to increased red blood cell count. (B)</p> Signup and view all the answers

Which physical examination finding might suggest a potential bleeding disorder contributing to iron deficiency?

<p>Increased bruising (C)</p> Signup and view all the answers

Which of the following is NOT a common cause of anemia due to increased red blood cell destruction?

<p>Iron deficiency. (D)</p> Signup and view all the answers

Why is a comprehensive head-to-toe physical examination important in evaluating a patient with anemia?

<p>Anemia can affect multiple body systems and have various causes. (A)</p> Signup and view all the answers

Why is it essential to evaluate all blood cell lines (RBCs and WBC with differential) during anemia diagnosis?

<p>To confirm a sole anemia diagnosis, as opposed to primary bone marrow disease. (B)</p> Signup and view all the answers

Which RBC index is most helpful in guiding the clinician to determine what other testing is necessary in establishing the cause of the anemia?

<p>MCV (mean corpuscular volume) (B)</p> Signup and view all the answers

What type of anemia is typically associated with acute blood loss?

<p>Life-threatening anemia with significant symptoms. (A)</p> Signup and view all the answers

What does an elevated reticulocyte count typically indicate?

<p>Increased RBC production in response to anemia or blood loss (A)</p> Signup and view all the answers

A patient's absolute reticulocyte count (ARC) is 60,000/mcL. How should this value be interpreted?

<p>A normal ARC indicating appropriate bone marrow production (A)</p> Signup and view all the answers

What does a low reticulocyte index (RI) generally indicate?

<p>A bone marrow unable to compensate for anemia. (A)</p> Signup and view all the answers

What does an increased immature reticulocyte fraction (IRF) and reticulocyte count suggest?

<p>Increased erythropoiesis. (B)</p> Signup and view all the answers

When evaluating anemia, what does a combination of anemia with significant reticulocytosis suggest?

<p>Likely hemolysis. (C)</p> Signup and view all the answers

Elevated serum bilirubin (unconjugated) and increased serum lactate dehydrogenase (LDH) commonly indicate which condition?

<p>Hemolysis (D)</p> Signup and view all the answers

A low serum haptoglobin value is indicative of:

<p>Intravascular hemolysis (C)</p> Signup and view all the answers

What does a low reticulocyte count in the presence of anemia typically suggest?

<p>Impaired erythropoiesis (C)</p> Signup and view all the answers

What information can be gained from a peripheral blood smear in the evaluation of anemia?

<p>Variations in RBC size and shape, as well as abnormal cell populations. (A)</p> Signup and view all the answers

What is the term used to describe a significant variation in the size of red blood cells in a specimen?

<p>Anisocytosis (B)</p> Signup and view all the answers

A clinician suspects a patient has a microcytic anemia. Which additional diagnostic tests are most important to differentiate between iron deficiency anemia (IDA) and anemia of chronic disease (ACD)?

<p>Serum ferritin, serum iron, TIBC, and transferrin saturation percentage (B)</p> Signup and view all the answers

What is serum ferritin a reflection of?

<p>Total body iron stores and reserves (B)</p> Signup and view all the answers

Which of the following is the most common cause of iron deficiency anemia (IDA) in adult males and postmenopausal females?

<p>Chronic gastrointestinal blood loss (B)</p> Signup and view all the answers

What serum ferritin concentration level typically indicates the absence of iron stores?

<p>Less than 12 ng/mL (B)</p> Signup and view all the answers

How is transferrin measured in the blood?

<p>Indirectly by the total iron binding capacity (TIBC) (A)</p> Signup and view all the answers

What is the recommended daily iron intake for adult males greater than or equal to 19 years old?

<p>8 mg/day (B)</p> Signup and view all the answers

In the context of iron deficiency, what is often the earliest laboratory change observed?

<p>Drop in serum ferritin level (D)</p> Signup and view all the answers

What is the approximate percentage of the body's iron that is contained within hemoglobin?

<p>70% (C)</p> Signup and view all the answers

A patient's lab results show a low MCV with a normal RDW. What does this indicate about their red blood cells?

<p>The red blood cells are uniformly small in size. (D)</p> Signup and view all the answers

Which of the following symptoms is specifically related to iron store depletion, rather than being a general symptom of anemia?

<p>Sore tongue (D)</p> Signup and view all the answers

Why are preterm infants at a greater risk for iron deficiency anemia?

<p>Their fetal iron stores are not fully established during gestation. (A)</p> Signup and view all the answers

What is the primary source of iron used to produce new red blood cells?

<p>Recycled iron from routine hemolysis (C)</p> Signup and view all the answers

In a patient with iron deficiency anemia (IDA), what would you expect to find in iron studies?

<p>Low serum iron level, decreased serum ferritin, increased TIBC, and decreased percentage of transferrin saturation (A)</p> Signup and view all the answers

What is the average daily iron loss in a healthy adult?

<p>1 mg (B)</p> Signup and view all the answers

Which test is essential for the accurate diagnosis of thalassemias?

<p>Hemoglobin electrophoresis (D)</p> Signup and view all the answers

What physical examination finding is specifically associated with severe iron deficiency anemia?

<p>Spoon-shaped nails (koilonychia) (C)</p> Signup and view all the answers

In older adults with suspected IDA, what underlying cause should be thoroughly evaluated?

<p>GI cancers (C)</p> Signup and view all the answers

Besides iron deficiency anemia, in what other condition can serum ferritin be elevated?

<p>Anemia of chronic disease (B)</p> Signup and view all the answers

What is the normal range for percentage of transferrin saturation?

<p>20% to 50% (B)</p> Signup and view all the answers

Which condition presents a more common diagnostic dilemma when differentiating from true iron deficiency anemia (IDA)?

<p>Anemia of chronic disease (ACD) (D)</p> Signup and view all the answers

What changes may occur as iron stores are depleted over time?

<p>Fall in serum ferritin followed by a decrease in serum iron and an increase in transferrin. (B)</p> Signup and view all the answers

What does TIBC directly indicate about iron transport?

<p>The availability of binding sites on transferrin. (D)</p> Signup and view all the answers

A patient's lab results show microcytosis with a normal RDW and normal iron studies. Which condition is most likely?

<p>Thalassemia (C)</p> Signup and view all the answers

In evaluating a hemogram that appears consistent with anemia of chronic disease, what initial step is recommended?

<p>Evaluating for the presence of inflammation (D)</p> Signup and view all the answers

Besides serum ferritin, which additional tests are useful when investigating hemolytic anemia?

<p>Haptoglobin and LDH (A)</p> Signup and view all the answers

A premenopausal female presents with suspected IDA. What potential cause should be suspected until proven otherwise?

<p>Abnormal or heavy uterine bleeding (B)</p> Signup and view all the answers

What is the primary reason daily prenatal iron supplementation is recommended?

<p>To improve maternal hemoglobin concentration and reduce the risk of low-birth-weight babies (B)</p> Signup and view all the answers

What is a common symptom specific to iron deficiency anemia in females, having an unknown cause?

<p>Pagophagia (D)</p> Signup and view all the answers

Where in the body does dietary iron get absorbed?

<p>Duodenum (B)</p> Signup and view all the answers

Which of the following best explains why serum ferritin is considered an 'acute-phase reactant'?

<p>It increases in response to inflammation or malignancy. (C)</p> Signup and view all the answers

In Anemia of Chronic Disease (ACD), how do the ferritin and TIBC levels typically change in comparison to IDA?

<p>Ferritin is normal or increased and TIBC is normal or low. (D)</p> Signup and view all the answers

Besides a CBC, which test is essential in differentiating iron deficiency anemia from other microcytic anemias like ACD or thalassemia?

<p>Iron studies (B)</p> Signup and view all the answers

What is the primary characteristic of ringed sideroblasts in sideroblastic anemia?

<p>Erythroblasts with one third or more of the nucleus surrounded by ferritin deposits. (C)</p> Signup and view all the answers

Which of the following is the first-line treatment for acquired sideroblastic anemia?

<p>Removing the offending agent or replacing the deficiency. (B)</p> Signup and view all the answers

What is the standard adult dose of elemental iron recommended per day for treating iron deficiency anemia (IDA)?

<p>60-200 mg (C)</p> Signup and view all the answers

Which of the following best describes how iron absorption is affected when iron supplements are taken with meals?

<p>Absorption is reduced by as much as 40% to 50%. (B)</p> Signup and view all the answers

How long should oral iron supplementation continue after the correction of anemia in iron deficiency anemia (IDA), according to the recommendations?

<p>Until iron stores are replenished, the cause is corrected, or indefinitely if the cause is chronic. (C)</p> Signup and view all the answers

What condition must patients meet to be offered IV iron therapy, according to the American Heart Association/American College of Cardiology guidelines?

<p>New York Heart Association Heart Failure II-III (D)</p> Signup and view all the answers

Why has intramuscular administration of iron fallen out of favor?

<p>Due to the pain of the injection and other bothersome side effects. (C)</p> Signup and view all the answers

Which of the following is a potential side effect of iron preparations?

<p>Upper GI discomfort. (A)</p> Signup and view all the answers

What hematological index is expected to begin to rise within 1 to 2 weeks of starting adequate dose of iron during IDA treatment?

<p>Hemoglobin level (D)</p> Signup and view all the answers

What is one potential concern associated with newer IV iron formulations?

<p>There is an association with increased infusion reactions. (D)</p> Signup and view all the answers

In the treatment of IDA, what is the significance of dietary assessment?

<p>It is essential for identifying factors that promote or inhibit iron absorption. (B)</p> Signup and view all the answers

What is the significance of serum iron levels and transferrin saturation in the diagnosis of sideroblastic anemia?

<p>They are typically elevated. (B)</p> Signup and view all the answers

Which vitamin therapy may partially correct anemia in patients with hereditary sideroblastic anemia?

<p>Vitamin B6 (pyridoxine) (C)</p> Signup and view all the answers

What is the therapeutic purpose of iron chelation therapy in the treatment of severe sideroblastic anemia?

<p>To prevent or treat transfusion-dependent iron overload. (D)</p> Signup and view all the answers

What hematological value is typical in sideroblastic anemia?

<p>Hematocrits of 20% to 30% (C)</p> Signup and view all the answers

What can enhance the absorption of iron supplements?

<p>Vitamin C (C)</p> Signup and view all the answers

What should patients avoid taking within 2 hours before or after oral iron therapy?

<p>Antacids (C)</p> Signup and view all the answers

Why is referral to a hematologist recommended?

<p>For iron intolerance or persistent iron deficiency anemia (C)</p> Signup and view all the answers

What age group is at increased risk for iron deficiency due to iron storage requirements?

<p>Preterm infants (C)</p> Signup and view all the answers

Which dietary practice can lead to iron deficiency in toddlers?

<p>Excessive consumption of cow's milk (D)</p> Signup and view all the answers

What complication can arise from untreated IDA during pregnancy?

<p>Preterm delivery (A)</p> Signup and view all the answers

What is the main reason for screening pregnant individuals for iron deficiency?

<p>Risk to mother and fetus associated with IDA (C)</p> Signup and view all the answers

What symptom may indicate severe anemia in patients that requires immediate evaluation?

<p>Chest pain or respiratory issues (A)</p> Signup and view all the answers

In terms of iron supplementation regimens, which of the following side effects should be discussed with patients?

<p>Constipation and nausea (C)</p> Signup and view all the answers

What diagnostic consideration should be undertaken for older adults with suspected IDA?

<p>Evaluation for GI cancers (B)</p> Signup and view all the answers

What might occur if a pregnant individual is anemic or delivers their baby prematurely?

<p>Higher risk of fetal anemia (A)</p> Signup and view all the answers

What effect does hemodilution during pregnancy have on iron studies?

<p>It distorts the results due to increased plasma volume (D)</p> Signup and view all the answers

What is a primary prevention strategy for iron deficiency anemia (IDA)?

<p>Careful attention to diet (B)</p> Signup and view all the answers

Which of the following is NOT a reason for referral to other specialists in cases of IDA?

<p>To manage dietary issues only (A)</p> Signup and view all the answers

What hemoglobin measurement is indicative of β-thalassemia minor?

<p>Increased hemoglobin A2 (D)</p> Signup and view all the answers

Which index is suggestive of β-thalassemia minor when differentiating from iron deficiency anemia?

<p>Green and King index (D)</p> Signup and view all the answers

How is α-thalassemia diagnosed at birth?

<p>Hemoglobin electrophoresis (B)</p> Signup and view all the answers

What laboratory result is typically expected in patients with β-thalassemia major?

<p>Low MCV and absence of HbA1 (A)</p> Signup and view all the answers

Which of the following describes a characteristic sign of iron overload in patients with β-thalassemia major?

<p>Very high ferritin levels (A)</p> Signup and view all the answers

What condition often resembles mild microcytic anemia found in hemoglobin E disease?

<p>β-Thalassemia minor (D)</p> Signup and view all the answers

What is the recommended management for patients with β-thalassemia minor who are considering pregnancy?

<p>Refer for genetic counseling (C)</p> Signup and view all the answers

In patients with thalassemia intermedia, which condition may necessitate referral to a hematologist?

<p>Persistent clinical problems (D)</p> Signup and view all the answers

Which hematological parameter is primarily used to assess the need for transfusion therapy in thalassemia major?

<p>Hemoglobin levels (C)</p> Signup and view all the answers

What are patients with thalassemia intermedia likely to develop due to iron hyperabsorption?

<p>Iron overload (A)</p> Signup and view all the answers

Which of the following is a critical component of managing individuals with β-thalassemia major?

<p>Regular blood transfusions (C)</p> Signup and view all the answers

Which term refers to the complexity and variety of clinical presentations in thalassemia syndromes?

<p>Thalassemia spectrum (D)</p> Signup and view all the answers

What is the most common hemoglobin variant found in individuals of Southeast Asian ancestry in relation to thalassemia?

<p>Hemoglobin E (B)</p> Signup and view all the answers

What is the recommended daily iron supplementation for pregnant persons experiencing IDA?

<p>60–120 mg/day (A)</p> Signup and view all the answers

What does the USPSTF currently state about universal screening for IDA in young children?

<p>It finds insufficient evidence for routine screening. (C)</p> Signup and view all the answers

Which of the following statements is true regarding the screening recommendations for pregnant persons?

<p>The ACOG recommends universal screening in early pregnancy. (B)</p> Signup and view all the answers

What is the primary dietary recommendation for strict vegetarians to prevent IDA?

<p>Supplement diets with iron-fortified vitamins. (C)</p> Signup and view all the answers

Which type of thalassemia is characterized by the absence of β-globin production?

<p>Sβ-thalassemia (D)</p> Signup and view all the answers

What is recommended for menstruating adolescents and females in areas with a high prevalence of IDA?

<p>Routine iron supplementation of 30 to 60 mg/day (B)</p> Signup and view all the answers

How do the severity and need for transfusions in thalassemia vary?

<p>They wax and wane across the spectrum of thalassemia types. (C)</p> Signup and view all the answers

What factor does NOT affect the determination of the manifestations of thalassemia?

<p>Age of the patient (A)</p> Signup and view all the answers

What is the typical hemoglobin trough level that is maintained in childhood to maximize growth and development?

<p>10 g/dL (D)</p> Signup and view all the answers

What is a significant risk factor for individuals diagnosed with non-transfusion dependent thalassemia (NTDT)?

<p>Occasional need for transfusions under stress (C)</p> Signup and view all the answers

How often are blood transfusions typically administered to patients in childhood?

<p>Every 2 to 4 weeks (D)</p> Signup and view all the answers

What is the primary goal of chelation therapy in patients receiving frequent red blood cell transfusions?

<p>Remove excess iron from the body (D)</p> Signup and view all the answers

What screening recommendation does the American Academy of Pediatrics have for children regarding IDA?

<p>Universal screening at age 1 year. (B)</p> Signup and view all the answers

Which of the following agents is a parental chelator that removes iron from tissues?

<p>Deferoxamine (A)</p> Signup and view all the answers

Which aspect is crucial in nutritional counseling for those at risk of IDA?

<p>Incorporating dietary history and cultural diet aspects (A)</p> Signup and view all the answers

Which condition is associated with the highest success rate for hematopoietic stem cell transplantation?

<p>β-thalassemia with matched sibling donor (D)</p> Signup and view all the answers

What type of thalassemia is most commonly found in individuals of Mediterranean descent?

<p>β-thalassemia (C)</p> Signup and view all the answers

What level of evidence did the USPSTF find regarding universal iron supplementation for pregnant persons?

<p>Insufficient evidence to recommend for or against (C)</p> Signup and view all the answers

What is a common side effect associated with Deferasirox?

<p>Elevations in serum creatinine (B)</p> Signup and view all the answers

What effect does microcytosis and hypochromia have in thalassemia?

<p>They are produced in all thalassemias except silent carriers. (D)</p> Signup and view all the answers

Luspatercept is utilized to address which specific need for patients?

<p>Reducing transfusion dependence (B)</p> Signup and view all the answers

What developmental issue may patients with β-thalassemia major experience despite appropriate treatment?

<p>Delays in puberty (B)</p> Signup and view all the answers

What is the advised ferritin level to maintain during chelation therapy?

<p>Below 1000 mcg/L (B)</p> Signup and view all the answers

Which of the following is a consideration for patients with thalassemia prior to conceiving?

<p>Genetic counseling referral (B)</p> Signup and view all the answers

What is the most significant complication of iron overload in patients requiring frequent transfusions?

<p>Heart and liver damage (C)</p> Signup and view all the answers

Which medication is used as a supplemental therapy to hasten maturation and sexual development in thalassemia patients?

<p>Estrogen or testosterone (C)</p> Signup and view all the answers

Which technique is enhancing the monitoring of iron overload in patients?

<p>MRI scanning (A)</p> Signup and view all the answers

What are the primary serious complications associated with chronic transfusions in individuals with severe β-thalassemia?

<p>Iron overload and infectious diseases (C)</p> Signup and view all the answers

Which condition is primarily indicated for continuous iron chelation therapy in thalassemia patients?

<p>Cardiac complications (D)</p> Signup and view all the answers

What is a potential complication of high-dose deferoxamine therapy?

<p>Cataracts and night blindness (D)</p> Signup and view all the answers

What is a common consequence of iron overload in patients with thalassemia?

<p>Endocrine disorders such as diabetes mellitus (B)</p> Signup and view all the answers

How can patients with β-thalassemia major contribute positively to their health management?

<p>By developing a flexible school or work schedule (A)</p> Signup and view all the answers

What is the primary risk of blood transfusions in patients with β-thalassemia?

<p>Transmission of viral infections (D)</p> Signup and view all the answers

Why is adequate iron chelation therapy crucial for patients with β-thalassemia?

<p>To prevent symptoms of both anemia and iron overload (D)</p> Signup and view all the answers

Which statement about patients with β-thalassemia minor is true?

<p>They should avoid iron unless diagnosed with IDA. (A)</p> Signup and view all the answers

What impact does iron overload have on growth potential in children with β-thalassemia?

<p>It may lead to growth restriction. (D)</p> Signup and view all the answers

What is the significance of screening for hepatitis B in patients undergoing chronic transfusions?

<p>Immunity may not last a lifetime, necessitating periodic boosters. (D)</p> Signup and view all the answers

What characterizes megaloblastic macrocytic anemia when examined under a peripheral smear?

<p>Oval-shaped RBCs and hypersegmented neutrophils (A)</p> Signup and view all the answers

Which of the following factors can contribute to complications in patients with thalassemia older than 10 years?

<p>Inadequate iron chelation in early life (A)</p> Signup and view all the answers

What common side effects can occur with subcutaneous administration of deferoxamine?

<p>Localized reactions such as itching and scarring (C)</p> Signup and view all the answers

What is the primary cause of megaloblastic macrocytic anemia?

<p>Vitamin B12 deficiency or folate deficiency (D)</p> Signup and view all the answers

What dietary source is primarily responsible for Vitamin B12 intake?

<p>Meat protein (C)</p> Signup and view all the answers

What is the main consequence of vitamin B12 deficiency on blood cells?

<p>Ineffective erythropoiesis and macrocytic RBCs (A)</p> Signup and view all the answers

Pernicious anemia primarily results from which underlying issue?

<p>Malabsorption due to loss of intrinsic factor (D)</p> Signup and view all the answers

Folate deficiency can lead to which of the following complications in pregnant individuals?

<p>Neural tube defects in the fetus (D)</p> Signup and view all the answers

What is the role of intrinsic factor in vitamin B12 absorption?

<p>It facilitates the absorption of vitamin B12 in the terminal ileum (B)</p> Signup and view all the answers

How long do folate stores typically last in the body with adequate intake?

<p>3 to 4 months (B)</p> Signup and view all the answers

What symptom is NOT typically associated with severe vitamin B12 deficiency?

<p>Increased white blood cell count (B)</p> Signup and view all the answers

What effect does chronic use of proton pump inhibitors have on vitamin B12 levels?

<p>Potentially decreases absorption (A)</p> Signup and view all the answers

Which group is at higher risk for vitamin B12 deficiency?

<p>Individuals adhering to vegan diets (C)</p> Signup and view all the answers

What is a primary reason for folate deficiency in alcoholics?

<p>Alcohol’s interference with folate metabolism (C)</p> Signup and view all the answers

What type of red blood cells are released into circulation in megaloblastic anemia?

<p>Macrocytic RBCs (A)</p> Signup and view all the answers

Which of the following conditions is NOT associated with vitamin B12 deficiency?

<p>Type 2 diabetes (C)</p> Signup and view all the answers

What is the common dietary source of folate?

<p>Citrus fruits (A)</p> Signup and view all the answers

Which of the following groups experiences megaloblastic anemia due to dietary causes?

<p>Individuals consuming a long-term vegan diet (A)</p> Signup and view all the answers

Flashcards

Anemia

A reduction in red blood cells, hemoglobin, or hematocrit.

Hemoglobin concentration

The amount of hemoglobin in blood; below levels suggest anemia.

Iron deficiency anemia (IDA)

Most common type of anemia, especially in children and pregnant women.

Anemia of chronic disease (ACD)

Common in older adults, often associated with chronic illnesses.

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Hypoproliferative anemia

Anemia due to inadequate red blood cell production.

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Nonhypoproliferative anemia

Anemia resulting from loss of red blood cells.

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Geographical associations

Certain anemias are more common in specific regions (e.g., sickle cell, thalassemia).

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Signs and symptoms of anemia

Result from inadequate oxygen transport to tissues.

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Etiologies of anemia

Anemia is categorized into RBC production disorders, destruction disorders, and blood loss.

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RBC production disorders

Conditions causing inadequate production of red blood cells (RBCs), such as iron deficiency anemia.

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RBC destruction disorders

Conditions leading to the increased breakdown of RBCs, like sickle cell anemia.

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Blood loss anemia

Anemia resulting from acute or chronic loss of blood.

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Erythropoiesis

The process of producing red blood cells in the bone marrow.

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Bone marrow function

Healthy bone marrow is crucial for producing RBCs and can be affected by illness.

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Iron's role in anemia

Iron is essential for RBC production and hemoglobin synthesis.

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Anemia of chronic kidney disease (ACKD)

Anemia due to the underproduction of erythropoietin in chronic kidney disease.

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Hemolysis

The destruction of red blood cells leading to anemia.

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Signs of anemia

Symptoms include fatigue, pallor, headache, and dyspnea due to low oxygen levels.

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Compensatory mechanisms

Body responses to anemia, like increased heart rate to maintain oxygen delivery.

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Reticulocyte count

Measurement of immature RBCs, indicating bone marrow's response to anemia.

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Chronic blood loss symptoms

Symptoms from slow blood loss can be insidious and include fatigue and weakness.

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Physical examination in anemia

A comprehensive check is needed to discover anemia's cause and effects.

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Common anemia signs

Examples include pale mucous membranes, tachycardia, and spoon-shaped nails.

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Anemia Symptoms

Increased heart or respiratory rate and systolic murmur may indicate anemia.

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Integumentary Evaluation

Assess integumentary system for pallor, nail integrity, and angular cheilitis.

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Bruising Signs

Increased bruising may indicate bleeding disorders or iron deficiency.

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Complete Blood Count (CBC)

A CBC is essential for diagnosing anemia and includes RBC indices and counts.

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RBC Indices

RBC indices measure cell size (MCV), hemoglobin concentration (MCH), and size variation (RDW).

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Mean Corpuscular Volume (MCV)

MCV measures the average size of red blood cells, identifying microcytic or macrocytic anemia.

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Normal Reticulocyte Count

Normal reticulocyte count ranges from 0.5% to 2.0% of total RBCs.

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Reticulocytopenia

Reticulocytopenia indicates poor bone marrow function or failure.

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Immature Reticulocyte Fraction (IRF)

IRF helps classify anemias based on the retention of RNA in immature reticulocytes.

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Hemolysis Indicators

Serum bilirubin, LDH, and haptoglobin levels help assess hemolytic anemia.

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Peripheral Blood Smear

Peripheral blood smear visualizes RBC size, shape variations, and abnormal populations.

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Anisocytosis

Anisocytosis refers to significant variations in red blood cell sizes.

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Serum Ferritin

Serum ferritin indicates total body iron stores, crucial for diagnosing IDA.

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Recommended iron intake for women

18 mg/day for nonpregnant females ages 19–50 years.

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Recommended iron intake for pregnant women

27 mg/day is the recommended intake for pregnant individuals.

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Recommended iron intake for adult men and older women

8 mg/day for adult males ≥19 years and females ≥51 years.

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Iron absorption site

Iron is primarily absorbed in the duodenum of the small intestine.

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Factors affecting iron absorption

Iron absorption is influenced by meal content, iron form, status, and other substances.

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Iron demand response

The small intestine increases iron absorption when demand rises or intake falls.

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Ferritin levels and iron stores

Declining ferritin levels indicate decreasing body iron stores.

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Transferrin saturation

Low transferrin saturation leads to impaired erythropoiesis when iron stores deplete.

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Microcytic anemia

Occurs when iron stores are critically low; low hemoglobin is noted in CBC.

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Signs of iron deficiency

Symptoms include fatigue, palpitations, irritability, and cravings for non-food items (pica).

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Physical findings of severe IDA

May show pallor, tachycardia, koilonychia, and flow murmurs.

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CBC role in diagnosing IDA

A CBC with differential is a key test for identifying iron deficiency anemia.

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Iron studies indicators

In IDA, expect low serum iron, decreased ferritin, high TIBC, and low transferrin saturation.

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Distinguishing ACD from IDA

In anemia of chronic disease, ferritin is normal or increased, while in IDA it is low.

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Sideroblastic anemias

Can also cause microcytosis but are inherited, differing from IDA.

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Ferritin Levels < 12 ng/mL

Indicate absence of iron stores in the body.

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Acute-phase Reactant

Substances that can be elevated due to inflammation.

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Transferrin

A protein that carries iron in the blood.

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Total Iron Binding Capacity (TIBC)

Measures binding sites on transferrin for iron transport.

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Chronic Blood Loss

Main cause of IDA often due to GI loss or menorrhagia.

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Fetal Iron Needs

Fetus consumes maternal iron stores to form hemoglobin.

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Haptoglobin

A protein that binds free hemoglobin in blood.

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Poikilocytosis

Variation in the shape of RBCs, indicating diseases.

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Daily Iron Loss

Normal adults lose approximately 1 mg of iron daily.

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Iron absorption inhibitors

Substances that block the body’s ability to absorb iron, such as calcium and magnesium.

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Acquired sideroblastic anemia

Anemia caused by defects in heme synthesis, leading to abnormal erythroid maturation.

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Ringed sideroblasts

Erythroblasts with a nucleus surrounded by ferritin deposits indicating sideroblastic anemia.

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Vitamin C

A vitamin that enhances the absorption of iron when consumed together.

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Hematocrit levels in anemia

In acquired sideroblastic anemia, hematocrit typically ranges from 20% to 30%.

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Referral to a hematologist

Consultation recommended for persistent anemia or intolerance to iron therapy.

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Treatment for acquired sideroblastic anemia

Removal of the offending agent or deficiency is the first-line treatment.

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Severe menorrhagia referral

Referral for evaluation due to heavy menstrual blood loss.

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Pyridoxine therapy

Vitamin B6 therapy may correct anemia in hereditary sideroblastic anemia cases.

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Nutritional iron deficits in toddlers

Deficiencies commonly seen due to excessive cow’s milk consumption.

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Iron supplementation during pregnancy

Recommended to meet increased iron demand for mother and fetus.

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Oral iron preparation dosage

Standard adult dose is 60 to 200 mg of elemental iron per day in divided doses.

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GI cancers in older adults

Important to evaluate in older patients with suspected iron deficiency anemia.

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Complications of untreated IDA

Can lead to preterm delivery and low birth weight during pregnancy.

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Ferrous sulfate

Commonly used oral iron preparation; well tolerated and absorbed.

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Iron absorption recommendations

Iron is best absorbed 30 minutes before meals and with ascorbic acid.

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Maximum iron absorption

Achieved best if iron is taken 30 minutes before meals.

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Calcium's effect on iron

Calcium significantly inhibits iron absorption when ingested together.

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Symptoms of iron preparations

Common side effects include nausea, constipation, and black stools.

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IV iron therapy

Administered when anemia is severe, malabsorption present, or oral iron is not tolerated.

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Dark tar stool

A common side effect of iron supplementation.

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Iron supplementation preparations

Various forms of iron supplements available, some combined with stool softeners.

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Newest IV iron formulations

Have safer profiles, reducing side effects and infusion reactions.

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Primary prevention for IDA

Includes attention to diet and appropriate use of medications.

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Nutritional counseling

Essential for individuals on restrictive diets to ensure adequate iron intake.

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Breastfeeding and IDA

Exclusive breastfeeding past 6 months without iron-fortified foods increases IDA risk.

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Dietary assessment

Evaluating types and timing of iron-containing foods to enhance absorption.

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Chronic iron-deficiency causes

Sources of low iron stores need to be identified for effective treatment.

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IDAs in adolescent females

Common due to menstrual blood loss and inadequate diet.

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Iron Deficiency Anemia (IDA) Screening

Assessment at each wellness visit for those at risk of IDA.

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NSAID Usage in Pregnancy

Counseling on NSAID type, amount, and frequency is crucial.

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Recommended Iron Intake in Pregnancy

Institute of Medicine recommends 27 mg of iron daily from food.

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Low-dose Iron Supplementation

27 mg/day iron is advised for all pregnant individuals.

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Universal Screening for IDA

Recommended for all pregnant individuals at the first visit.

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CDC Iron Supplement Guidelines

Recommends 30 mg/day iron and 60-120 mg/day if IDA found.

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WHO Guidelines on Iron Supplementation

Suggests 30-60 mg of iron/day for menstruating adolescents in high-risk areas.

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Nutritional Counseling Importance

Counsel patients on dietary history and culturally appropriate diets to prevent IDA.

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Thalassemia

A group of inherited blood disorders affecting hemoglobin production.

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Classification of Thalassemia

Classified based on severity and need for transfusions.

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α-Thalassemia Epidemiology

Common in Southeast Asia, India, and the Philippines.

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β-Thalassemia Characteristics

More frequent in Mediterranean, Middle Eastern, African, and Asian descents.

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Sickle β-Thalassemia

Condition characterized by less β-globin which can resemble sickle cell disease.

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Clinical Symptoms of Thalassemia

Symptoms depend on the number of globin chain deletions in hemoglobin.

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β-thalassemia minor

A condition identified by mildly low hemoglobin, low MCV, and increased HbA2 levels.

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Differentiation between β-thalassemia and IDA

Distinction is made using tests like the England and Fraser index.

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Hemoglobin electrophoresis

Laboratory test measuring different types of hemoglobin to aid in diagnosis.

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Normal RDW in β-thalassemia minor

Red cell distribution width remains normal in β-thalassemia minor, unlike IDA.

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β-thalassemia intermedia diagnosis

Characterized by low MCV, low MCH/MCHC, and low HbA1 levels.

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β-thalassemia major diagnosis

Marked by low MCV, no HbA1 and often severe symptoms in childhood.

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α-thalassemia detection

Diagnosed via newborn screening, showing Bart's hemoglobin along with normal types.

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Iron overload symptoms

Condition from transfusions seen in β-thalassemia major, reflected in high ferritin levels.

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Complete blood count (CBC) purpose

Initial diagnostic tool for assessing anemia, revealing RBC indices and more.

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Peripheral smear use

Microscopic analysis used to observe blood cell morphology in suspected anemias.

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Management of thalassemia intermedia

Can be managed in primary care, regular monitoring without transfusions unless necessary.

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Genetic counseling for thalassemia

Recommended for patients with β-thalassemia minor who are of childbearing age.

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Transfusions in β-thalassemia major

Regular blood transfusions crucial to maintain hemoglobin levels and promote growth.

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Iron chelation therapy need

Necessary for managing iron overload in patients with frequent blood transfusions.

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Hemoglobin trough level

Target level of hemoglobin to maintain in patients, typically around 10 g/dL.

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Transfusion frequency

Transfusions are usually given every 2 to 4 weeks depending on the patient.

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Chelation therapy

Standard treatment to prevent complications from iron overload.

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Ferritin level goal

Maintain ferritin levels below 1000 mcg/L to prevent overload.

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Deferoxamine

A chelating agent that removes iron from tissues and is administered parentally.

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Deferasirox

An oral iron chelator taken on an empty stomach, adjustments based on serum ferritin.

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Deferiprone

Another oral agent for iron removal, effective for heart iron overload.

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Hematopoietic stem cell transplantation (HSCT)

Potentially curative procedure for β-thalassemia, preferred for matched donors.

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Luspatercept

A drug enhancing erythropoiesis, reducing transfusion needs by one third.

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Hydroxycarbamide

Investigated for use in TDT, may induce fetal hemoglobin production.

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Gene therapy for TDT

Promising treatment using CRISPR/Cas technology to normalize hemoglobin levels.

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Iron overload complications

Contribute to liver and heart problems due to frequent RBC transfusions.

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Endocrinology consultation

Advised for patients near puberty to address hormonal issues.

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Genetic counseling

Recommended for individuals with thalassemia considering conception.

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β-thalassemia complications

Serious complications arise from treatments like transfusions and iron chelation.

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Iron overload

Accumulation of excess iron leading to serious health issues.

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Chelation therapy issues

Iron chelation therapy can cause localized reactions and toxicity.

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Alloantibodies and transfusions

Development of antibodies complicates finding suitable blood donors.

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HIV and hepatitis screening

While blood screenings minimize risks, they aren’t foolproof.

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Hepatitis B management

Vaccination and screening are crucial as immunity fades over time.

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Complications of chronic transfusions

Iron overload complicates health, leading to growth and endocrine issues.

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Self-management in β-thalassemia

Patients must learn to manage their chelation therapy and health.

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Impact on adolescent life

Thalassemia treatments affect social life and self-image in adolescents.

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Growth and development in thalassemia

Patients often experience growth restrictions and delayed puberty.

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Genetic counseling importance

Genetic counseling is crucial for those considering conception.

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Iron chelation compliance

Proper adherence to chelation is essential to avoid complications.

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Characteristics of megaloblastic anemia

Characterized by oval RBCs and hypersegmented neutrophils.

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Common causes of macrocytic anemia

Vitamin B12 and folate deficiencies primarily cause megaloblastic anemia.

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Peripheral smear examination

Used to identify characteristics of megaloblastic anemia.

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Nonmegaloblastic anemia

Anemia related to increased reticulocytes due to blood loss or hemolysis.

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Megaloblastic macrocytic anemia

Anemia caused by Vitamin B12 and folate deficiencies, leading to larger than normal RBCs.

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Vitamin B12 deficiency

Lack of Vitamin B12, leading to impaired DNA synthesis and macrocytic anemia.

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Folate deficiency

Insufficient folate causing impaired erythropoiesis, often seen in pregnancy and alcoholism.

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Ineffective erythropoiesis

Impaired production of red blood cells, often seen in megaloblastic anemia.

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Intrinsic factor (IF)

A glycoprotein needed for Vitamin B12 absorption from the intestine.

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Pernicious anemia

An autoimmune disorder affecting IF production, leading to Vitamin B12 deficiency.

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Chronic gastritis

Long-term inflammation of the stomach; can damage parietal cells, affecting B12 absorption.

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Proton pump inhibitors (PPIs)

Medications that can reduce stomach acid; may lead to reduced B12 absorption.

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Daily B12 requirement

Normal dietary need for Vitamin B12 is 3 to 5 mcg/day for adults.

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Signs of severe B12 deficiency

Symptoms include marked anemia and neurological deficits like ataxia and numbness.

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Malabsorption syndromes

Conditions that impair nutrient absorption; lead to folate and B12 deficiencies.

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Folate reserve

Body stores of folate last approximately 3 months with adequate intake.

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Neurologic symptoms of deficiency

Initial symptoms include peripheral neuropathy, proprioception loss, and ataxia.

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Sources of dietary folate

Folate is abundant in green leafy vegetables, nuts, and fortified foods.

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Study Notes

Anemia: Definition and Types

  • Anemia is not a disease but a symptom of an underlying disorder.
  • It's characterized by a reduction in red blood cell count, hemoglobin concentration, or hematocrit.
  • Hemoglobin levels below 13.6 g/dL for males and 12 g/dL for females typically indicate anemia.
  • Diagnosis relies primarily on lab data, although some symptoms may be present.
  • Common in all age groups but more prevalent in older adults (65+).
  • Common causes in older adults include anemia of chronic disease, iron deficiency anemia, nutritional deficiencies (iron, B12, folate), or decreased marrow response to erythropoietin.
  • Sickle cell disease is common in individuals with ancestry from Africa, including the Middle East, Caribbean, India, and parts of Central and South America.
  • Thalassemia is more common in individuals with Mediterranean, African, Middle Eastern, Southeast Asian, Indian, and Pakistani ancestry.

Anemia Pathophysiology

  • Anemia results from hemoglobin deficiency, impacting oxygen transport to tissues.
  • The resulting symptoms reflect inadequate oxygen delivery.
  • Anemia arises from either reduced red blood cell production (hypoproliferative) or increased red blood cell destruction (nonhypoproliferative).
  • Hypoproliferative causes include blood loss and hemolysis.
  • Nonhypoproliferative causes involve nutrient deficiencies and organ/bone marrow dysfunction.
  • Categorized as:
  • Red blood cell production disorders
  • Red blood cell destruction disorders
  • Acute/chronic blood loss

Red Blood Cell Production Disorders

  • Adequate red blood cell production requires a healthy bone marrow, functional erythropoietin system, and sufficient intake and utilization of iron, B12, folate, and protein.
  • Erythropoiesis (red blood cell production) occurs in the bone marrow (red marrow).
  • Red marrow is present at birth, decreasing until late adolescence, then concentrated in areas like the lower skull, vertebrae, shoulder/pelvic structures, ribs, and sternum.
  • Inactive marrow (yellow marrow) can be reactivated under stress (like chronic anemia).
  • Conditions affecting the bone marrow can lead to anemia.
  • Iron deficiency anemia (IDA) is the most common disorder related to inadequate red blood cell production.
  • Iron is necessary for red blood cell proliferation, maturation, and hemoglobin synthesis.
  • Erythrocyte lifespan is ~100-120 days, with a ~1% daily turnover.
  • Increased erythropoiesis (in response to hypoxia or anemia) is supported primarily via iron.
  • Anemia of chronic kidney disease (ACKD) results from insufficient erythropoietin production by the kidney.
  • Other causes include vitamin B12 and folate deficiencies, anemia of chronic disease, and aplastic anemia.

Red Blood Cell Destruction Disorders

  • Increased red blood cell destruction (hemolysis) can lead to anemia.
  • Several conditions contribute to hemolysis:
  • Hemoglobin disorders (sickle cell anemia)
  • Red blood cell membrane defects (hereditary spherocytosis, elliptocytosis)
  • Red blood cell enzyme defects (glucose-6-phosphate dehydrogenase deficiency)
  • Autoimmune antibody production (autoimmune hemolytic anemia)

Blood Loss Anemia

  • Acute blood loss (e.g., trauma, hemorrhage) causes rapid, severe anemia with potentially life-threatening consequences.
  • Chronic blood loss (e.g., slow, minor GI bleeding) leads to insidious anemia as the body compensates.
  • Common sources of chronic blood loss include menorrhagia, chronic microscopic hematuria, and occult GI bleeding.

Clinical Presentation and Physical Examination

  • Anemia's presentation varies based on onset speed and body compensation.
  • Symptoms arise from decreased tissue oxygen and compensatory responses.
  • Early symptoms include fatigue, malaise, headache, dyspnea, and decreased exercise tolerance.
  • Severe anemia can cause reduced exercise capacity, tachycardia, dyspnea requiring oxygen, and other symptoms.
  • Physical examination should evaluate for pallor, nail changes, and potential bleeding-related symptoms.

Diagnostics

  • Complete Blood Count (CBC): Provides crucial information on RBC indices, morphology, platelet count, WBC differential, and reticulocyte count.
  • RBC Indices: Mean corpuscular volume (MCV) is particularly useful in categorizing anemia types (microcytic, normocytic, macrocytic).
  • Reticulocyte Count/Index (RI): Assesses bone marrow response to anemia. Normal responses are characterized by increased reticulocyte counts, while decreased reticulocyte counts indicate impaired marrow function.
  • Immature Reticulocyte Fraction (IRF): further classifies anemia as increased or decreased erythropoiesis. High reticulocyte counts and IRF suggest increased erythropoiesis (hemolysis and blood loss), while low reticulocyte count and IRF indicate decreased erythropoiesis (ACD, IDA, B12/folate deficiencies).
  • Hemolysis Evaluation: assesses for hemolytic anemia through serum bilirubin, LDH, and haptoglobin levels.
  • Peripheral blood smear: valuable for visually identifying variations in RBC size and shape that might be missed by indices alone.
  • Iron Studies: Serum ferritin, serum iron, total iron-binding capacity (TIBC), and transferrin saturation help differentiate IDA from ACD and other causes of microcytic anemia.

Iron Deficiency Anemia (IDA)

  • Most common type of anemia globally.
  • Predominantly affects females of reproductive age and older adults.
  • Common causes include chronic blood loss (GI, menstrual).
  • Inadequate nutrition and increased iron requirements are also significant causes in specific populations (children, pregnant women).
  • Pathophysiology: Iron depletion triggers reduced erythropoiesis, leading to microcytic, hypochromic anemia.
  • Presentation: Similar to other severe anemias. Specific IDA symptoms include paresthesias, sore tongue, brittle nails, koilonychia (spoon-shaped nails), and pica (craving non-nutritive substances).
  • Diagnostics: Low serum iron, decreased serum ferritin, increased TIBC, and decreased transferrin saturation.
  • Treatment: Oral iron supplementation is the customary first-line approach. Dietary evaluation and adjustment are crucial for prevention and management. Parenteral iron is indicated for malabsorption or intolerance to oral iron.

Thalassemia

  • Group of inherited blood disorders affecting hemoglobin production.
  • Inherited autosomal recessive genetic disorders.
  • Presents on a spectrum of severity, from mild to severe, transfusion-dependent conditions.
  • Impacts levels of hemoglobin subtypes and severity of anemia.
  • Types: α-thalassemia, β-thalassemia, and potentially combined with other hemoglobinopathies (e.g., sickle cell β-thalassemia).
  • Diagnosis: Primarily relies on hemoglobin electrophoresis and possibly further molecular testing (e.g., α-globin DNA mutation analysis).
  • Differential diagnosis: Differentiate thalassemia from iron deficiency anemia and other hemoglobinopathies.
  • Treatment: Management varies based on severity.
  • Frequent transfusions for severe forms (β-thalassemia major) to maintain hemoglobin levels.
  • Iron chelation therapy to prevent iron overload.
  • Supportive measures, genetic counseling, and potentially stem cell transplantation.

Macrocytic Anemia

  • Characterized by large red blood cells (MCV > 100 fL).
  • Sub-classified into megaloblastic and non-megaloblastic forms.
  • Megaloblastic macrocytic anemia: caused by vitamin B12 and folate deficiencies.
  • Vitamin B12 and Folate Deficiencies
  • Role in DNA synthesis.
  • Prevalence from dietary restriction (e.g., vegan diets), malabsorption disorders (e.g., pernicious anemia), and increased need (e.g., pregnancy).
  • Classic symptoms include neurologic deficits (for B12 deficiency).
  • Treatment involves addressing nutritional deficiencies or underlying conditions.

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