86 Questions
What is the primary cause of anemia in iron deficiency anemia?
Decreased intake or absorption of iron
Which of the following is a characteristic of anemia of chronic disease?
Relative iron deficiency due to inflammation
What is the primary mechanism of action in thalassemia?
Decreased production of globin chains leading to hemolysis
What is the primary effect of folate deficiency on RBC production?
Decreased production of DNA leading to decreased RBC production
What is the primary characteristic of anemia of chronic disease in terms of RBC morphology?
Microcytic and hypochromic
What is the primary mechanism of action in iron deficiency anemia?
Decreased production of hemoglobin due to decreased iron levels
What is the primary presentation of severe iron deficiency anemia?
Fatigue, tachycardia, and hemodynamic instability
What is the primary effect of thalassemia on RBC production?
Decreased production of globin chains leading to hemolysis
What is the primary mechanism of action in sickle cell disease?
Abnormal HbS with Abnormal B chain clumping together
What is the expected result of hemoglobin electrophoresis in a patient with sickle cell disease?
Only HbS is present
What is the mode of inheritance of sickle cell disease?
Autosomal recessive
What is the primary difference between sickle cell disease and sickle cell trait?
Sickle cell trait has a lower risk of vasoocclusion
What is the expected result of a CBC in a patient with polycythemia vera?
Elevated RBC, HB, and HCT
What is the primary mechanism of jaundice in sickle cell disease?
Increased unconjugated bilirubin
What is the expected result of iron studies in a patient with iron deficiency anemia?
Low ferritin, high transferrin
What is the primary consequence of vasoocclusion in sickle cell disease?
Tissue ischemia
What is the expected result of a CBC in a patient with alpha-thalassemia?
Low RBC, HB, and HCT
What is the primary mechanism of action in polycythemia vera?
Excessive proliferation of RBC in bone marrow
What is a common symptom of iron deficiency anemia in children?
Cognitive and physical developmental delay
Which of the following is a characteristic of thalassemia?
Low RBC, HB, and HCT
What is the primary cause of jaundice in sickle cell disease?
Increased unconjugated bilirubin
What is a common complication of sickle cell disease?
All of the above
What is the primary mechanism of action in polycythemia vera?
Excessive proliferation of RBCs in bone marrow
What is the expected result of hemoglobin electrophoresis in a patient with alpha-thalassemia?
All Hb types reduced
What is the primary difference between sickle cell disease and sickle cell trait?
Sickle cell disease has two mutated genes, while sickle cell trait has one
What is the primary mechanism of action in iron deficiency anemia?
Decreased iron storage
What is the expected result of a CBC in a patient with anemia of chronic disease?
Low RBC, HB, and HCT
What is the primary consequence of vasoocclusion in sickle cell disease?
Tissue ischemia
What is the primary mechanism underlying the development of anemia in iron deficiency anemia?
Low iron levels lead to decreased hemoglobin production.
Which of the following is a characteristic of anemia of chronic disease?
Relative iron deficiency due to decreased utilization
What is the primary effect of thalassemia on RBC production?
Decreased production of hemoglobin due to impaired globin chain synthesis
What is the primary mechanism of action in folate deficiency?
Unability to make DNA at a normal rate, leading to reduced RBC production
What is the primary characteristic of anemia of chronic disease in terms of RBC morphology?
Normocytic and normochromic
What is the primary mechanism underlying the development of anemia in thalassemia?
Decreased production of hemoglobin due to impaired globin chain synthesis
What is the primary presentation of mild iron deficiency anemia?
Asymptomatic
What is the primary consequence of chronic bleeding in terms of iron deficiency?
Increased loss of iron leading to iron deficiency
What is the primary mechanism of action in sickle cell disease?
Abnormal HbS with Abnormal B chain clump together causing sickling.
What is the expected result of iron studies in a patient with anemia of chronic disease?
High Ferritin, Low Transferrin.
What is the primary mechanism of jaundice in sickle cell disease?
RBC die prematurely causing too much Unconjugated Bilirubin.
What is the primary consequence of vasoocclusion in sickle cell disease?
Tissue ischemia and infarction.
What is the primary difference between sickle cell disease and sickle cell trait?
Sickle cell disease has 80% HbS and 20% HbA, while sickle cell trait has 20% HbS and 80% HbA.
What is the primary mechanism of action in polycythemia vera?
Excessive proliferation of RBC in bone marrow due to normal Erythropoietin.
What is the primary characteristic of anemia of chronic disease in terms of RBC morphology?
Normocytic and Normochromic.
What is the primary effect of thalassemia on RBC production?
RBC production is decreased.
What is the primary mechanism of action in iron deficiency anemia?
RBC destruction in the bone marrow due to lack of iron.
What is the primary presentation of severe iron deficiency anemia?
Pallor, Tiredness, and Tachycardia.
What is the primary effect of chronic infections on iron availability in anemia of chronic disease?
Inhibition of iron release from hepatic storage
What is the primary mechanism of action in thalassemia?
Decreased production of globin chains leading to decreased hemoglobin
What is the primary effect of folate deficiency on red blood cell production?
Macrocytic and normochromic red blood cells
What is the primary characteristic of iron deficiency anemia in terms of red blood cell morphology?
Microcytic and hypochromic red blood cells
What is the primary mechanism of action in B12 deficiency?
Inhibition of DNA synthesis leading to decreased red blood cell production
What is the primary presentation of severe iron deficiency anemia?
Fatigue, tachycardia, heart murmur, and pallor
What is the primary effect of increased iron loss in chronic bleeding?
Absolute iron deficiency leading to decreased red blood cell production
What is the primary mechanism of action in anemia of chronic disease?
Inhibition of iron release from hepatic storage
What is the primary effect of thalassemia on red blood cell production?
Decreased production of red blood cells due to decreased hemoglobin production
What is the primary characteristic of anemia of chronic disease in terms of red blood cell morphology?
Normocytic and normochromic red blood cells
At what age does SCD become symptomatic?
6 months
What is the primary mechanism of jaundice in SCD?
Hemolysis
What is the expected result of hemoglobin electrophoresis in a patient with SCD?
Only HbS
What is the primary mechanism of action in Polycythemia Vera?
Excessive proliferation of RBC in bone marrow
What is the primary difference between SCD and SCT?
Number of abnormal genes
What is the primary consequence of vaso-occlusion in SCD?
All of the above
What is the primary mechanism of action in Secondary Polycythemia?
Chronic hypoxemia
What is the primary presentation of SCD?
All of the above
What is the primary risk factor for Thrombosis in Polycythemia Vera?
Increased viscosity
What is the primary characteristic of SCD in terms of RBC morphology?
Abnormal but not a quantity issue
What is the primary cause of anemia in patients with chronic renal failure?
Low level of erythropoietin (EPO)
Which of the following is a characteristic of vitamin B12 deficiency anemia?
Macrocytic anemia with neurological symptoms
What is the primary mechanism of iron deficiency anemia?
Absolute iron deficiency leading to decreased red blood cell production
Which of the following is a characteristic of folate deficiency anemia?
Macrocytic anemia with pallor
What is the primary mechanism of thalassemia?
Decreased globin chains leading to decreased red blood cell production
Which of the following can cause bone marrow suppression?
All of the above
What is the primary mechanism of lead poisoning anemia?
Inhibition of heme synthesis
What is the primary mechanism of iron regulation in the body?
Hepcidin stops extra iron absorption
Which of the following is a characteristic of vitamin B12 deficiency anemia in pregnant women?
Neural tube defects
What is the primary mechanism of diagnosis for folate deficiency anemia?
All of the above
What is the primary mechanism of anemia of chronic disease?
Relative iron deficiency due to decreased ability to utilize iron
What is the expected result of iron studies in a patient with iron deficiency anemia?
Decreased ferritin and increased transferrin
What is the primary mechanism of sickle cell disease?
Defect in the structure of hemoglobin, leading to sickling of red blood cells
What is the expected result of a CBC in a patient with anemia of chronic disease?
Low RBC, Hb, and HCT, with normocytic normochromic red blood cells
What is the primary effect of chronic infections on iron availability in anemia of chronic disease?
Decreased ability to utilize iron
What is the primary consequence of vasoocclusion in sickle cell disease?
Tissue ischemia and organ damage
What is the primary characteristic of iron deficiency anemia in terms of red blood cell morphology?
Microcytic hypochromic red blood cells
What is the primary mechanism of anemia in thalassemia?
Defect in the structure of hemoglobin, leading to increased destruction of red blood cells
What is the primary effect of thalassemia on red blood cell production?
Decreased production of red blood cells due to defects in hemoglobin structure
What is the primary characteristic of anemia of chronic disease in terms of RBC morphology?
Normocytic normochromic red blood cells
Study Notes
Iron Deficiency Anemia
- Caused by absolute iron deficiency, leading to decreased RBC production
- Can be caused by decreased intake, absorption, or increased loss in chronic bleeding
- Mechanism: low iron levels lead to less HB and RBC production, resulting in microcytic and hypochromic blood cells
- Presentation: mild (asymptomatic), severe (fatigue, tachycardia, hemic murmur, pallor)
- Diagnostic tests: CBC (low RBC, low HB, low HCT), iron studies (low ferritin, high transferrin)
Anemia of Chronic Disease
- Caused by relative iron deficiency, inability to utilize iron
- Caused by infections, cancers, and inflammatory conditions
- Mechanism: chronic infections lead to inhibition of iron release, causing decreased iron availability for RBC production
- Presentation: mild (asymptomatic), severe (patients with heart disease may have angina, dyspnea, tachycardia)
- Diagnostic tests: CBC (low RBC, HB, HCT), iron studies (high ferritin, low transferrin, low TIBC)
Thalassemia
- Caused by decreased production of globin chains, leading to decreased hemoglobin
- Can lead to hemolysis, compensation, and bone marrow expansion
- Presentation: growth retardation, skull deformities, splenomegaly, tachycardia, heart failure
- Diagnostic tests: CBC (low HB, HCT, elevated RBC), sizing/color (hypochromic/microcytic), iron studies (normal ferritin/TIBC), hemoglobin electrophoresis (reduced HbA, increased HbA2 and HbF)
- Patterns of inheritance: inherited disorder of hemoglobin, seen in Africans, South Asians, and Mediterranean populations
Folate Deficiency and B12 Deficiency
- Caused by inability to make DNA at a normal rate, leading to reduced RBC production
- Can lead to macrocytic cells, but normochromic
- Presentation: pallor, tiredness, tachycardia, pregnancy (neural tube defects), neurological symptoms (demyelination of spinal cord and peripheral nerves)
- Diagnostic tests: CBC (low HB, low RBC, low HCT), sizing/color (macrocytic, normochromic)
Sickle Cell Disease
- Caused by abnormal hemoglobin (HbS) with abnormal B chain, leading to sickling
- Can lead to chronic hemolysis, vasoocclusion, and jaundice
- Presentation: growth retardation, jaundice, chest syndrome, painful crisis, strokes, autosplenectomy, and risk of infections
- Diagnostic tests: CBC (low RBC, HB, HCT, ^ reticulate), sizing (sickle), blood chemistry (increased unconjugated serum bilirubin), hemoglobin electrophoresis (HbS only)
- Patterns of inheritance: inherited autosomal recessive, two mutated genes from each parent needed to have the disease
Iron Deficiency Anemia
- Caused by absolute iron deficiency, leading to decreased RBC production
- Can be caused by decreased intake, absorption, or increased loss in chronic bleeding
- Mechanism: low iron levels lead to less HB and RBC production, resulting in microcytic and hypochromic blood cells
- Presentation: mild (asymptomatic), severe (fatigue, tachycardia, hemic murmur, pallor)
- Diagnostic tests: CBC (low RBC, low HB, low HCT), iron studies (low ferritin, high transferrin)
Anemia of Chronic Disease
- Caused by relative iron deficiency, inability to utilize iron
- Caused by infections, cancers, and inflammatory conditions
- Mechanism: chronic infections lead to inhibition of iron release, causing decreased iron availability for RBC production
- Presentation: mild (asymptomatic), severe (patients with heart disease may have angina, dyspnea, tachycardia)
- Diagnostic tests: CBC (low RBC, HB, HCT), iron studies (high ferritin, low transferrin, low TIBC)
Thalassemia
- Caused by decreased production of globin chains, leading to decreased hemoglobin
- Can lead to hemolysis, compensation, and bone marrow expansion
- Presentation: growth retardation, skull deformities, splenomegaly, tachycardia, heart failure
- Diagnostic tests: CBC (low HB, HCT, elevated RBC), sizing/color (hypochromic/microcytic), iron studies (normal ferritin/TIBC), hemoglobin electrophoresis (reduced HbA, increased HbA2 and HbF)
- Patterns of inheritance: inherited disorder of hemoglobin, seen in Africans, South Asians, and Mediterranean populations
Folate Deficiency and B12 Deficiency
- Caused by inability to make DNA at a normal rate, leading to reduced RBC production
- Can lead to macrocytic cells, but normochromic
- Presentation: pallor, tiredness, tachycardia, pregnancy (neural tube defects), neurological symptoms (demyelination of spinal cord and peripheral nerves)
- Diagnostic tests: CBC (low HB, low RBC, low HCT), sizing/color (macrocytic, normochromic)
Sickle Cell Disease
- Caused by abnormal hemoglobin (HbS) with abnormal B chain, leading to sickling
- Can lead to chronic hemolysis, vasoocclusion, and jaundice
- Presentation: growth retardation, jaundice, chest syndrome, painful crisis, strokes, autosplenectomy, and risk of infections
- Diagnostic tests: CBC (low RBC, HB, HCT, ^ reticulate), sizing (sickle), blood chemistry (increased unconjugated serum bilirubin), hemoglobin electrophoresis (HbS only)
- Patterns of inheritance: inherited autosomal recessive, two mutated genes from each parent needed to have the disease
Iron Deficiency Anemia
- Caused by absolute iron deficiency, leading to decreased RBC production
- Can be caused by decreased intake, absorption, or increased loss in chronic bleeding
- Mechanism: low iron levels lead to less HB and RBC production, resulting in microcytic and hypochromic blood cells
- Presentation: mild (asymptomatic), severe (fatigue, tachycardia, hemic murmur, pallor)
- Diagnostic tests: CBC (low RBC, low HB, low HCT), iron studies (low ferritin, high transferrin)
Anemia of Chronic Disease
- Caused by relative iron deficiency, inability to utilize iron
- Caused by infections, cancers, and inflammatory conditions
- Mechanism: chronic infections lead to inhibition of iron release, causing decreased iron availability for RBC production
- Presentation: mild (asymptomatic), severe (patients with heart disease may have angina, dyspnea, tachycardia)
- Diagnostic tests: CBC (low RBC, HB, HCT), iron studies (high ferritin, low transferrin, low TIBC)
Thalassemia
- Caused by decreased production of globin chains, leading to decreased hemoglobin
- Can lead to hemolysis, compensation, and bone marrow expansion
- Presentation: growth retardation, skull deformities, splenomegaly, tachycardia, heart failure
- Diagnostic tests: CBC (low HB, HCT, elevated RBC), sizing/color (hypochromic/microcytic), iron studies (normal ferritin/TIBC), hemoglobin electrophoresis (reduced HbA, increased HbA2 and HbF)
- Patterns of inheritance: inherited disorder of hemoglobin, seen in Africans, South Asians, and Mediterranean populations
Folate Deficiency and B12 Deficiency
- Caused by inability to make DNA at a normal rate, leading to reduced RBC production
- Can lead to macrocytic cells, but normochromic
- Presentation: pallor, tiredness, tachycardia, pregnancy (neural tube defects), neurological symptoms (demyelination of spinal cord and peripheral nerves)
- Diagnostic tests: CBC (low HB, low RBC, low HCT), sizing/color (macrocytic, normochromic)
Sickle Cell Disease
- Caused by abnormal hemoglobin (HbS) with abnormal B chain, leading to sickling
- Can lead to chronic hemolysis, vasoocclusion, and jaundice
- Presentation: growth retardation, jaundice, chest syndrome, painful crisis, strokes, autosplenectomy, and risk of infections
- Diagnostic tests: CBC (low RBC, HB, HCT, ^ reticulate), sizing (sickle), blood chemistry (increased unconjugated serum bilirubin), hemoglobin electrophoresis (HbS only)
- Patterns of inheritance: inherited autosomal recessive, two mutated genes from each parent needed to have the disease
Anemia
- Decreased production of Red Blood Cells (RBC) can lead to anemia
- Causes:
- Bone marrow suppression
- Cancer cells impacting bone marrow
- Drugs (anticonvulsants, chemo, toxins, and viruses)
- Low level of erythropoietin (EPO)
- Chronic Renal Failure
- Ineffective erythropoiesis in the bone marrow
- Iron Deficiency anemia
- Lead poisoning
- Thalassemia
- B12 deficiency anemia
- Folate deficiency anemia
- Causes:
Mechanism of Folate and Vitamin B12 Anemias
- Folate and B12 are required for DNA synthesis
- DNA is needed for normal RBC division
- Blood smear characteristics:
- Macrocystic: large RBC due to ineffective division
- Normochromic: normal Hb formation
Presentation of Folate and Vitamin B12 Deficiencies
- Folate deficiency:
- Pallor, tiredness, tachycardia
- Preterm neural tube defects
- No neurological symptoms
- B12 deficiency:
- Pallor, tiredness, tachycardia
- Neurological symptoms: demyelination of spinal cord and peripheral nerves (paresthesia, numbness, ataxia, dementia)
Diagnosis of Folate and Vitamin B12 Deficiencies
- Decreased RBC, Hb, HCT
- MCV > 100 FL (macrocytic anemia)
- Decreased WBC and platelets
- Low levels of Folate and B12 to confirm diagnosis
Iron Deficiency Anemia
- Most common type of anemia
- Mechanism:
- Low iron leads to decreased Hb and RBC production
- Small, pale RBC (microcytic and hypochromic)
Regulation of Iron
- Dietary sources: heme iron from meats, non-heme iron from plants
- Absorption: duodenum; 1-2mg/day
- Regulation: hepcidin stops excess absorption; iron is lost in skin and GI cells
Causes of Iron Deficiency Anemia
- Insufficient intake of iron (vegans, breastfeeding infants)
- Decreased iron absorption:
- Damage to duodenal mucosal cells (celiac disease, inflammatory bowel disease)
- Decreased production of hydrochloric acid in the stomach (gastric resection/bypass)
- Increased demand for RBC:
- Slow chronic blood loss (menstrual, colon cancer, peptic ulcer)
Presentation of Iron Deficiency Anemia
- Mild: asymptomatic
- Severe:
- Fatigue, tachycardia, hemic murmur, pallor, chest pain (in CAD)
- PICA (pica eating disorder)
- Cognitive and physical developmental delay in children
Diagnosis of Iron Deficiency Anemia
- Low Hb, HCT
- Low MCV (microcytic RBC)
- Iron studies:
- Low ferritin (decreased iron storage)
- High transferrin (increased iron transport)
- High TIBC (total iron binding capacity)
Anemia of Chronic Disease
- 2nd most common type of anemia
- Mechanism:
- Decreased ability to utilize iron
- Inflammatory mediators inhibit release of iron from hepatic storage
- Causes:
- Chronic infections (Hep C, Hep B, HIV, TB, osteomyelitis)
- Chronic inflammatory conditions (RA, lupus, IBD)
- Cancer
- Presentation:
- Usually asymptomatic
- Heart disease: angina, dyspnea, tachycardia
- Diagnosis:
- Low RBC, Hb, HCT
- MCV: normal or slightly decreased
- Iron studies:
- Increased ferritin (excess iron storage)
- Decreased transferrin (decreased iron supply)
- Decreased TIBC
Increased Destruction of RBC (Hemolysis)
- Second mechanism of anemia
- Inherited:
- Sickle cell anemia (extramedullary hemolysis)
- Thalassemia (intramedullary hemolysis)
- Acquired:
- Autoimmune hemolytic anemia
- Mechanical trauma to RBC
- Medications
- Infections (malaria)
Sickle Cell Disease
- Autosomal recessive inherited disorder
- Mutated gene for B globin
- Abnormal HbS, no normal HbA production
- Pathological changes:
- Chronic hemolysis
- Abnormal HbS with abnormal B chain
- Sickling of RBC
- RBC are sickle-shaped and rigid
- Obstruction of blood flow
- Tissue ischemia
- Worsened by acidosis, dehydration, hypoxia
- Presentation:
- Symptomatic after 6 months of life
- Growth retardation
- Jaundice
- Chest syndrome and pulmonary hypertension
- Vaso-occlusive painful crisis
- Stroke
- Auto-splenectomy and risk of infections
- Renal failure
- Diagnosis:
- Low RBC, Hb, HCT
- MCV: normal (not a quantity issue, but a quality issue)
- High reticulocyte count
- Serum bilirubin increased
- Hemoglobin electrophoresis confirms diagnosis
Sickle Cell Trait
- Carrier state
- One abnormal gene
- HbS: 20%, HbA: 80%
Polycythemia
- Increased RBC, Hb, HCT
- Types:
- Polycythemia vera
- Secondary polycythemia
Polycythemia Vera
- Mechanism:
- Excessive proliferation of RBC in bone marrow
- Overproduction of RBC despite normal erythropoietin
- Presentation:
- Uncontrolled production of RBC
- Risks of thrombosis
- Secondary polycythemia:
- Chronic hypoxemia
- Triggering kidney to produce more erythropoietin
- Asymptomatic or flushed skin or headaches
This quiz covers different types of anemia, their causes and effects on the body. Learn about iron deficiency anemia, anemia of chronic disease, thalassemia, and folate and B12 deficiency.
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