GTR Home > Conditions/Phenotypes > Acquired hemoglobin H disease

Associated genes

  • Also known as: ATR2, JMS, MRXHF1, RAD54, RAD54L, SFM1, SHS, XH2, XNP, ZNF-HX, ATRX
    Summary: alpha thalassemia/mental retardation syndrome X-linked

Clinical features

  • Splenomegaly
  • Thrombocytopenia
  • Respiratory insufficiency
  • Myelodysplasia
  • Bruising susceptibility
  • Abnormality of neutrophils
  • Abnormality of coagulation
  • Microcytic anemia
  • Acute leukemia
  • Hypochromic microcytic anemia
  • Abnormality of immune system physiology
  • Hemoglobin H
  • Reduced alpha/beta synthesis ratio
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