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Hereditary Spherocytosis

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Topic updated on 11/10/17 8:14am

Snapshot
  • A 17-year-old Norwegian girl presents with RUQ pain. Ultrasound reveals a calculi present in the gallbladder. Physical Exam shows mild splenomegaly. Her labs show a mild normocytic anemia with an elevated reticulocyte count. Peripheral blood smear shows that many of her RBCs have no area of central pallor. Direct antiglobulin test is negative.
Introduction

  • A form of intrinsic hemolytic anemia 
  • Pathophysiology
    • caused by a deficiency in spectrin, ankyrin, or Band 3.1 in the RBC membrane/cytoskeleton
      • leads to ↑ fragility with loss of membrane blebs
      • cells have a spheroid shape due to the lack of spectrin
  • Genetics
    • autosomal dominant
Presentation
  • Symptoms
    • anemia
  • Physical exam
    • jaundice
    • splenomegaly
Evaluation
  • Labs
    • ↑ indirect bilirubin
      • predominantly extravascular hemolysis with degradation by splenic macrophages
    • direct antiglobulin test (Coombs test) is negative
    • ↑ reticulocyte count 
      • indicates increased turnover of RBCs in response to to hemolysis
    • normocytic anemia
    • ↑ MCHC, RDW
  • Peripheral blood smear
    • spherocytes
      • lack central pallor, smaller and rounder than normal RBCs  
  • Osmotic fragility test
    • positive
Treatment
  • Pharmacologic
    • folic acid supplementation
      • indications
        • not curative but helpful
  • Surgical
    • splenectomy
      • indications
        •  for severe disease
Prognosis, Prevention, and Complications
  • Aplastic crisis
    • most commonly caused by parvovirus (B19)
  • Childhood gallstones
    • ↑ amount of bilirubin in the bile leads to pigmented calcium bilirubinate stones


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