Hereditary Spherocytosis

Aka: Hereditary Spherocytosis, Minkowski-Chauffard syndrome

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II. Pathophysiology

  1. Most common inherited membranopathy
  2. Results from membrane Protein gene mutations
  3. Autosomal Dominant

III. Labs: Initial

  1. Complete Blood Count
    1. Anemia
    2. Mean Corpuscular Hemoglobin (MCH) to Mean Corpuscular Volume (MCV) ratio >0.35
  2. Direct Antibody Test (Direct Coombs Test)
    1. Negative
  3. Peripheral Blood Smear
    1. Spherocytes

IV. Labs: Confirmation

  1. Osmotic Fragility
  2. Eosin-5-Maleimide Binding

V. Management

  1. Splenectomy
    1. Indicated in moderate to severe cases

VI. Complications

  1. Hemolytic Anemia

VII. References

  1. Phillips (2018) Am Fam Physician 98(6): 354-61 [PubMed]

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Related Studies

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