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Beta-thalassemia intermedia

ORPHA:231222 · Disease · Disorder

HPO 表現型（共 36 項）

Very frequent (99-80%)(4)

  • Anemia of inadequate productionHP:0010972
  • Decreased mean corpuscular volumeHP:0025066
  • OsteoporosisHP:0000939
  • Persistence of hemoglobin FHP:0011904

Frequent (79-30%)(11)

  • Abnormality of iron homeostasisHP:0011031
  • Abnormality of the skeletal systemHP:0000924
  • Erythroid hyperplasiaHP:0012132
  • Extramedullary hematopoiesisHP:0001978
  • HypercoagulabilityHP:0100724
  • Increased HbA2 hemoglobinHP:0045048
  • Increased susceptibility to fracturesHP:0002659
  • JaundiceHP:0000952
  • PallorHP:0000980
  • Reduced bone mineral densityHP:0004349
  • Skin ulcerHP:0200042

Occasional (29-5%)(13)

  • Abnormality of the cardiovascular systemHP:0001626
  • Abnormality of the liverHP:0001392
  • CholelithiasisHP:0001081
  • Decreased liver functionHP:0001410
  • Elevated hepatic iron concentrationHP:0012465
  • HepatomegalyHP:0002240
  • HepatosplenomegalyHP:0001433
  • High-output congestive heart failureHP:0001722
  • Increased total leukocyte countHP:0001974
  • OsteopeniaHP:0000938
  • Proximal tubulopathyHP:0000114
  • Pulmonary arterial hypertensionHP:0002092
  • SplenomegalyHP:0001744

Very rare (<4-1%)(8)

  • Adrenal insufficiencyHP:0000846
  • CirrhosisHP:0001394
  • Diabetes mellitusHP:0000819
  • Hepatocellular carcinomaHP:0001402
  • HypogonadismHP:0000135
  • HypoparathyroidismHP:0000829
  • HypothyroidismHP:0000821
  • Spinal cord compressionHP:0002176