Epidemiology


Etiology


Pathophysiology


Clinical features

  • Anemia and pallor
  • Jaundice (due to ↑ unconjugated bilirubin)
  • Splenomegaly with left upper quadrant pain
  • Black pigment gallstones (made of calcium bilirubinate), may lead to cholecystitis

Diagnostics

  • Normocytic anemia: mean cell volume (MCV) within normal range (80-100 fL) or slightly decreased
  • Increased mean corpuscular hemoglobin concentration (MCHC)
    • The increase in MCHC is the result of a decrease in RBC cell volume (caused by a decrease in RBC water content), whereas the hemoglobin content remains constant.
  • ↑ Red blood cell distribution width (↑ RDW)
    • This finding is highly suggestive of HS!
  • ↑ Reticulocytes (normal range: 0.5%–1.5% of total RBC count)
  • Findings of hemolytic anemia
    • ↑ Unconjugated bilirubin
    • ↓ Haptoglobin
    • ↑ LDH
  • Eosin-5-maleimide binding test (EMA binding test)
    • Test of choice, as results are readily available (within two hours)
    • Decreased binding between dye (eosin-5-maleimide) and RBC membrane proteins
    • Binding is quantified using flow cytometry, which shows decreased mean fluorescence
  • Positive osmotic fragility test

Treatment