Macrocytic
Macrocytic Anemias
- Characteristics: Large RBCs (MCV > 100 fL)
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Causes:
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Megaloblastic Anemias:
- Impaired DNA synthesis due to vitamin B12 or folate deficiency
- Peripheral blood smear: Oval macrocytes, hypersegmented neutrophils (more than 5 lobes)
- Lab findings:
- Low vitamin B12 or folate levels
- Elevated methylmalonic acid (MMA) and homocysteine levels (in B12 deficiency)
- Elevated homocysteine levels (in folate deficiency)
- Causes of B12 deficiency:
- Pernicious anemia (autoimmune destruction of parietal cells in the stomach, leading to decreased intrinsic factor)
- Malabsorption (e.g., Crohn’s disease, celiac disease)
- Dietary deficiency (rare)
- Causes of Folate Deficiency:
- Inadequate intake (e.g., poor diet, alcoholism)
- Malabsorption
- Increased demand (e.g., pregnancy, hemolytic anemia)
- Medications (e.g., methotrexate)
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Non-Megaloblastic Anemias:
- Macrocytosis without hypersegmented neutrophils
- Causes:
- Alcoholism
- Liver disease
- Hypothyroidism
- Myelodysplastic syndromes (MDS)
- Reticulocytosis (increased number of reticulocytes due to hemolysis or blood loss)
- Medications (e.g., hydroxyurea)
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Megaloblastic Anemias:
Laboratory Tests for Anemia
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Complete Blood Count (CBC):
- Hemoglobin (HGB)
- Hematocrit (HCT)
- Red Blood Cell Count (RBC)
- Mean Corpuscular Volume (MCV)
- Mean Corpuscular Hemoglobin (MCH)
- Mean Corpuscular Hemoglobin Concentration (MCHC)
- Red Cell Distribution Width (RDW)
- White Blood Cell Count (WBC) and Differential
- Platelet Count
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Peripheral Blood Smear:
- RBC morphology (size, shape, color)
- WBC differential
- Platelet estimate
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Reticulocyte Count:
- Percentage and absolute number of reticulocytes
- Corrected Reticulocyte Count/Reticulocyte Production Index (RPI)
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Iron Studies:
- Serum Iron
- Total Iron-Binding Capacity (TIBC)
- Transferrin Saturation
- Ferritin
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Vitamin B12 and Folate Levels:
- Serum B12
- Red Blood Cell Folate
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Methylmalonic Acid (MMA) and Homocysteine Levels:
- Elevated in B12 Deficiency
- Homocysteine also Elevated in Folate Deficiency
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Hemoglobin Electrophoresis:
- Identifies abnormal hemoglobin variants (e.g., HbS, HbC)
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Direct Antiglobulin Test (DAT):
- Detects antibodies or complement proteins on the surface of RBCs
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Bone Marrow Examination:
- Cellularity
- Maturation of cell lines
- Presence of abnormal cells
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Other Tests:
- Haptoglobin and LDH (for hemolysis)
- Coombs test (for autoimmune hemolytic anemia)
- Osmotic Fragility Test (for hereditary spherocytosis)
- G6PD Assay (for G6PD deficiency)
Key Terms
- Anemia: Deficiency of red blood cells or hemoglobin
- Macrocytic: Large red blood cells (MCV > 100 fL)
- Reticulocyte: Immature red blood cell
- Hemolysis: Destruction of red blood cells
- Extramedullary Hematopoiesis: Blood cell production outside the bone marrow
- Megaloblastic: Abnormal maturation of blood cells due to impaired DNA synthesis