Anemia Types and Deficiencies Quiz

Anemia

• Classified based on cause: blood loss, nutritional, hemolytic, and bone marrow suppression (aplastic), as well as neonatal anemia
• Each type has unique characteristics and symptoms

Iron Deficiency Anemia

• Onset is usually gradual, noticeable through headache, pallor, lethargy, fatigue, shortness of breath, and intolerance to cold temperatures.
• Late manifestations can include pica, glossitis (inflamed tongue), stomach irritation, and cheilosis (cracks at the corners of the mouth)
• Caused by:
  • Dietary deficiencies: vegetarian diet, inadequate protein intake
  • Decreased absorption: partial or total gastrectomy, chronic diarrhea, malabsorption syndromes
  • Increased metabolic requirements: pregnancy, lactation
  • Blood loss: GI bleeding (especially from ulcers or chronic aspirin use), menorrhagia
  • Chronic hemoglobinuria

Vitamin B12 Deficiency Anemia

• Usually has an insidious onset
• Signs and symptoms: nausea; anorexia; swollen, sore tongue; and skin discoloration (hyperpigmentation) of the hands and knuckles.
• Neurologic symptoms: diminished reflexes, confusion, memory loss, gait disturbances, and peripheral neuropathy.
• Caused by:
  • Inadequate dietary intake of vitamin B12 (e.g., meats, eggs, dairy products)
  • Malabsorption or lack of intrinsic factor

Folic Acid Deficiency Anemia

• Onset is typically gradual
• Characterized by: pallor, progressive weakness and fatigue, shortness of breath, and heart palpitations.
• Similar manifestations to Vitamin B12 deficiency: glossitis and cheilosis.
• Caused by:
  • Inadequate intake of folic acid-rich foods (e.g., green leafy vegetables, fruits, cereals, meats)
  • Malabsorption disorders (e.g., celiac disease)
  • Certain medications (e.g., methotrexate, chemotherapeutic agents)

Sickle Cell Disease

• Symptoms: moderate to severe lethargy and pain (due to vascular occlusion).
• Reduced tissue oxygenation and blood stagnation can lead to altered levels of consciousness.
• Sickle cell crisis: trapping of sickled RBCs in the spleen and splenomegaly; reduced or absent RBC production by bone marrow leading to severe decrease in hemoglobin; rarely, hyperhemolytic crisis, which manifests as an extreme increase in RBC destruction.
• Acute chest syndrome: increased hemoglobin sickling, exacerbating hypoxia, potentially life-threatening

Thalassemia

• Symptoms: mild to moderate anemia, mild splenomegaly, bronze skin coloring, and bone marrow hyperplasia.
• Thalassemia major: severe anemia, heart failure, and liver and spleen enlargement from increased RBC destruction.
• Risk of fractures of the long bones, ribs, and vertebrae
• Accumulation of iron in the heart, liver, and pancreas following repeated transfusions may lead to organ failure
• More prevalent among people of Mediterranean, African, and South Asian descent

Acquired Aplastic Anemia

• Onset can be gradual or sudden
• Symptoms: fatigue, pallor, progressive weakness, exertional dyspnea, headache, ultimately tachycardia and heart failure.
• Bleeding gums, excessive bruising, and nosebleeds.
• Deficiency of WBCs increases risk of infection, resulting in sore throat and fever.
• Caused by:
  • Exposure to toxins or medications

Blood Loss Anemia

• A loss of RBCs and other blood components
• Effects depend on volume and rate of blood loss, and if acute or chronic
• Acute loss triggers compensatory mechanisms (increased heart rate, peripheral blood vessel constriction) to maintain cardiac output
• Continued blood loss can lead to hypovolemic shock and circulatory failure.
• Chronic bleeding can deplete iron stores and result in microcytic and hypochromic RBCs.

Nutritional Anemias

• Caused by nutrient deficits that affect RBC formation or hemoglobin synthesis.
• Deficiencies can arise from inadequate diet, malabsorption, or increased nutrient needs.
• Includes:
  • Iron deficiency anemia
  • Vitamin B12 deficiency anemia
  • Folic acid deficiency anemia

Hemolytic Anemias

• Characterized by premature destruction (lysis) of RBCs.
• Can occur within the circulatory system or as a result of phagocytosis by WBCs.
• Hemolysis leads to increased reticulocytes in circulating blood.
• Most types are characterized by normocytic and normochromic RBCs.
• Causes can be intrinsic (cell membrane defects, hemoglobin defects, inherited enzyme deficiencies) or extrinsic (drugs, chemicals, toxins, venoms, trauma, burns, infections).

Glucose-6-Phosphate Dehydrogenase (G6PD) Anemia

• Hereditary defect in RBC metabolism, common in people of African and Mediterranean descent.

Multisystem Effects of Anemia

• Respiratory: Increased rate, dyspnea on exertion
• Urinary: Hemoglobinuria (G6PD anemia)
• Gastroenteric: Diarrhea (pernicious anemia), anorexia (vitamin B;2 anemia), nausea (vitamin B12 anemia), gallstones (sickle cell anemia), splenomegaly (hemolytic anemias), abdominal pain (sickle cell anemia)
• Musculoskeletal: Night cramps (vitamin B12 anemia), bone pain, joint pain (sickle cell anemia), bone deformity and fractures (hemolytic anemias)
• Neurological: Paresthesias (pernicious anemia), proprioception deficits (pernicious anemia), headache (vitamin B12 anemia), fainting (vitamin B12 anemia), forgetfulness (vitamin B12 anemia), pain (sickle cell anemia), behavioral disturbances (pica - iron deficiency anemia)
• Cardiovascular: Tachycardia, palpitations, systolic murmur, ventricular hypertrophy, angina, potential complications, heart failure (sickle cell anemia)
• Integumentary: Pallor (skin, mucous membranes, conjunctiva, nail beds), jaundice (hemolytic anemias), petechiae (aplastic anemia), purpura (aplastic anemia), spoon-shaped nails (iron deficiency anemia), cheilosis (iron deficiency anemia), sore, beefy red tongue (pernicious anemia), chronic leg ulcers (sickle cell anemia) ### G6PD Deficiency
• G6PD is an enzyme necessary for red blood cell (RBC) energy production.
• A defective gene on the X chromosome causes G6PD deficiency, affecting more males than females.
• G6PD deficiency leads to direct oxidation and damage of hemoglobin within RBCs, causing hemolysis (RBC destruction).
• Hemolysis primarily occurs when individuals are exposed to stressors like infections or certain medications.
•  Stressors increase RBC metabolic demands, which the body cannot meet due to G6PD deficiency, resulting in cell damage.
•  Damaged RBCs are destroyed within 7-12 days.
•  Symptoms develop within days of exposure to a trigger, and include:
  • Pallor
  • Jaundice
  • Hemoglobinuria (hemoglobin in the urine)
  • Elevated reticulocyte count (immature RBCs).
• As new RBCs are produced, the count should return to normal.

Acquired Aplastic Anemia

• Rare condition where the bone marrow fails to produce enough red blood cells, white blood cells, and platelets (pancytopenia).
• Bone marrow is replaced by fat.
•  Most cases are believed to be caused by an autoimmune reaction where the body mistakenly attacks the bone marrow. 
•  Stem cell count in the bone marrow is significantly reduced, often less than 1% of normal levels.
•  Anemia develops as the body cannot replace aging RBCs.
• Remaining RBCs may be normal size and color, or larger than usual (increased mean corpuscular volume).
•  Manifestations of acquired aplastic anemia vary based on the severity of pancytopenia and include:
  • Fatigue
  • Pallor
  • Weakness
  • Shortness of breath with exertion
  • Headache
  • Tachycardia
  • Heart failure
• Platelet deficiency can cause:
  • Bleeding gums
  • Excessive bruising
  • Nosebleeds
•  WBC deficiency increases risk of infections, leading to:
  • Sore throat
  • Fever

Fanconi Anemia

• Rare, inherited form of aplastic anemia caused by multiple genetic mutations.
•  Typically autosomal recessive, but rarely X-linked recessive.
•  Mutations in at least 15 different genes identified, with the majority (80-90%) caused by mutations in FANCA, FANCC, or FANCG genes.
•  Occurs in approximately 1 in 160,000 individuals globally.
•  More common among people of Ashkenazi Jewish descent, the Roma population of Spain, and Black South Africans.
•  Genetic counseling is recommended for individuals and families with Fanconi anemia.

Test your knowledge on different types of anemia, including iron deficiency and vitamin B12 deficiency. Explore their causes, symptoms, and unique characteristics. This quiz covers essential information relevant to medical science and nutrition.