Macrocytic

Macrocytic Anemias

  • Characteristics: Large RBCs (MCV > 100 fL)
  • Causes:
    • 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)
    • 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)

Laboratory Tests for Anemia

  • 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
  • Peripheral Blood Smear:
    • RBC morphology (size, shape, color)
    • WBC differential
    • Platelet estimate
  • Reticulocyte Count:
    • Percentage and absolute number of reticulocytes
    • Corrected Reticulocyte Count/Reticulocyte Production Index (RPI)
  • Iron Studies:
    • Serum Iron
    • Total Iron-Binding Capacity (TIBC)
    • Transferrin Saturation
    • Ferritin
  • Vitamin B12 and Folate Levels:
    • Serum B12
    • Red Blood Cell Folate
  • Methylmalonic Acid (MMA) and Homocysteine Levels:
    • Elevated in B12 Deficiency
    • Homocysteine also Elevated in Folate Deficiency
  • Hemoglobin Electrophoresis:
    • Identifies abnormal hemoglobin variants (e.g., HbS, HbC)
  • Direct Antiglobulin Test (DAT):
    • Detects antibodies or complement proteins on the surface of RBCs
  • Bone Marrow Examination:
    • Cellularity
    • Maturation of cell lines
    • Presence of abnormal cells
  • 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