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Hereditary spherocytosis

ORPHA:822 · Disease · Disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(1)

  • Increased red cell osmotic fragilityHP:0005502

Frequent (79-30%)(14)

  • AnemiaHP:0001903
  • CholelithiasisHP:0001081
  • HepatomegalyHP:0002240
  • HyperbilirubinemiaHP:0002904
  • HypercoagulabilityHP:0100724
  • HypofibrinogenemiaHP:0011900
  • Increased mean corpuscular hemoglobin concentrationHP:0025548
  • JaundiceHP:0000952
  • Muscle weaknessHP:0001324
  • PallorHP:0000980
  • ReticulocytosisHP:0001923
  • SpherocytosisHP:0004444
  • SplenomegalyHP:0001744
  • Spontaneous hemolytic crisesHP:0005525

Occasional (29-5%)(8)

  • Abdominal painHP:0002027
  • AtaxiaHP:0001251
  • ChillsHP:0025143
  • Extramedullary hematopoiesisHP:0001978
  • FeverHP:0001945
  • Maculopapular exanthemaHP:0040186
  • MyalgiaHP:0003326
  • Restrictive cardiomyopathyHP:0001723

Very rare (<4-1%)(4)

  • Abdominal distentionHP:0003270
  • GoutHP:0001997
  • Growth delayHP:0001510
  • Skin ulcerHP:0200042