Conditions / Genetic

hemochromatosis type 2A

info · Genetic

A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21.

Signs and symptoms

  • Elevated circulating iron concentration
  • Hepatomegaly
  • Increased circulating ferritin concentration
  • Hypogonadotropic hypogonadism
  • Lethargy
  • Amenorrhea
  • Cirrhosis
  • Arrhythmia
  • Infertility
  • Hyperpigmentation of the skin

Also known as: HFE2A