hemochromatosis type 3

A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22.

Signs and symptoms

• Increased circulating ferritin concentration
• Elevated transferrin saturation
• Elevated circulating hepatic transaminase concentration
• Hyperpigmentation of the skin
• Hypogonadotropic hypogonadism
• Elevated circulating iron concentration
• Amenorrhea
• Fatigue
• Anemia
• Purpura

Also known as: HFE3; TFR2-related hemochromatosis; hemochromatosis due to defect in transferrin receptor 2