Hereditary Hemochromatosis

General Principles

Hereditary hemochromatosis (HH) is an autosomal recessive disorder of iron overload.

  • This is the most common inherited form of iron overload affecting Caucasian populations. One in 200–400 Caucasian individuals is homozygous for hemochromatosis (HFE) gene mutations. It rarely manifests clinically before middle age (40–60 years).
  • HH is most frequently caused by a missense mutation (C282Y) in the HFE gene located on chromosome 6. Approximately 90% of patients with HH are homozygote for the C282Y mutation. Less frequent mutations that lead to HH include H63D and S65C and the compound heterozygous C282Y/H63D and C282Y/S65C mutations.
  • Secondary iron overload states include thalassemia major, sideroblastic anemia, chronic hemolytic anemias, iatrogenic parenteral iron overload, chronic hepatitis B and C, alcohol-induced liver disease, porphyria cutanea tarda, and aceruloplasminemia.

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