hemochromatosis type 5

A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12.

Signs and symptoms

• Elevated transferrin saturation
• Elevated hepatic iron concentration
• Elevated circulating iron concentration
• Increased circulating ferritin concentration
• Abnormal circulating copper concentration
• Anemia
• Abnormal circulating transferrin concentration
• Abnormal circulating ceruloplasmin concentration

Also known as: FTH1-associated iron overload; FTH1-related iron overload; HFE5