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Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

ORPHA:251380 · Disease · Disorder

HPO 表現型（共 13 項）

Obligate (100%)(1)

  • Persistence of hemoglobin FHP:0011904

Frequent (79-30%)(1)

  • HbS hemoglobinHP:0045047

Occasional (29-5%)(11)

  • Abdominal painHP:0002027
  • ArthralgiaHP:0002829
  • AspleniaHP:0001746
  • Hypochromic microcytic anemiaHP:0004840
  • Increased red cell sickling tendencyHP:0008346
  • Pulmonary infiltratesHP:0002113
  • ReticulocytosisHP:0001923
  • RetinopathyHP:0000488
  • Severe infectionHP:0032169
  • Splenic infarctionHP:0034336
  • SplenomegalyHP:0001744