Hemoglobin

Hereditary Spherocytosis

search

Hereditary Spherocytosis, Minkowski-Chauffard syndrome

  • Pathophysiology
  1. Most common inherited membranopathy
  2. Results from membrane Protein gene mutations
  3. Autosomal Dominant
  • 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
  • Labs
  • Confirmation
  1. Osmotic Fragility
  2. Eosin-5-Maleimide Binding
  • Management
  1. Splenectomy
    1. Indicated in moderate to severe cases
  • Complications
  1. Hemolytic Anemia
  • References
  1. Phillips (2018) Am Fam Physician 98(6): 354-61 [PubMed]