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Hereditary elliptocytosis

ORPHA:288 · Disease · Disorder

HPO 表現型（共 23 項）

Obligate (100%)(1)

  • Abnormal erythrocyte morphologyHP:0001877

Frequent (79-30%)(2)

  • ElliptocytosisHP:0004445
  • Increased red cell osmotic fragilityHP:0005502

Occasional (29-5%)(13)

  • Congenital hemolytic anemiaHP:0004804
  • Exercise intoleranceHP:0003546
  • FatigueHP:0012378
  • Hemolytic anemiaHP:0001878
  • HyperbilirubinemiaHP:0002904
  • JaundiceHP:0000952
  • Neonatal hyperbilirubinemiaHP:0003265
  • PoikilocytosisHP:0004447
  • Prolonged neonatal jaundiceHP:0006579
  • ReticulocytosisHP:0001923
  • Skin ulcerHP:0200042
  • SplenomegalyHP:0001744
  • StomatocytosisHP:0004446

Very rare (<4-1%)(7)

  • Abdominal painHP:0002027
  • ChillsHP:0025143
  • CholelithiasisHP:0001081
  • FeverHP:0001945
  • Frontal bossingHP:0002007
  • Hydrops fetalisHP:0001789
  • Postnatal growth retardationHP:0008897