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Beta-thalassemia

ORPHA:848 · Clinical group · Group of disorders

HPO 表現型（共 21 項）

Very frequent (99-80%)(6)

  • Abnormal hemoglobinHP:0011902
  • Abnormality of the skeletal systemHP:0000924
  • AnemiaHP:0001903
  • Microcytic anemiaHP:0001935
  • PallorHP:0000980
  • SplenomegalyHP:0001744

Frequent (79-30%)(9)

  • Abnormal skull morphologyHP:0000929
  • Abnormality of iron homeostasisHP:0011031
  • Abnormality of temperature regulationHP:0004370
  • HepatomegalyHP:0002240
  • Hypogonadotropic hypogonadismHP:0000044
  • IrritabilityHP:0000737
  • Muscle weaknessHP:0001324
  • Reduced bone mineral densityHP:0004349
  • Respiratory insufficiencyHP:0002093

Occasional (29-5%)(6)

  • CholelithiasisHP:0001081
  • HepatitisHP:0012115
  • Hypertrophic cardiomyopathyHP:0001639
  • Skin ulcerHP:0200042
  • ThrombocytopeniaHP:0001873
  • Venous thrombosisHP:0004936