Conditions / Genetic

hemochromatosis type 2B

info · Genetic

A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13.

Signs and symptoms

  • Hepatic fibrosis
  • Cirrhosis
  • Increased circulating ferritin concentration
  • Elevated transferrin saturation
  • Secondary amenorrhea
  • Hyperpigmentation of the skin
  • Hypogonadism
  • Elevated circulating iron concentration
  • Hepatomegaly
  • Anemia

Also known as: HFE2B