hemochromatosis type 4

A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32.

Signs and symptoms

• Impaired glucose tolerance
• Arthralgia
• Cataract
• Anemia
• Cardiomyopathy
• Impotence
• Glucose intolerance
• Increased circulating ferritin concentration
• Hepatic steatosis
• Hepatomegaly

Also known as: HFE4; autosomal dominant hereditary hemochromatosis; ferroportin disease; hemochromatosis due to defect in ferroportin