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Ferroportin Disease

Abstract

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NORD is very grateful to William JH Griffiths PhD FRCP, Consultant Hepatologist, Addenbrooke's Hospital, Cambridge, UK, for assistance in the preparation of this report.

Synonyms of Ferroportin Disease

  • hemochromatosis type 4
  • SLC40A1-related hereditary hemochromatosis

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Ferroportin disease, also known as hemochromatosis type 4, is a rare genetic disorder characterized by the abnormal accumulation of iron in the body. Ferroportin disease is caused by mutations of the SLC40A1 gene. The specific symptoms associated with ferroportin disease can vary greatly from one person to another. Some individuals may only have elevated levels of ferritin, a protein that binds to iron and is used as an indicator of the body's iron stores in the blood plasma. Other individuals may develop symptoms similar to classic hereditary hemochromatosis

Ferroportin disease is classified as an iron overload disorder, a group of disorders characterized by the abnormal accumulation of iron in the body. It is a separate, distinct disorder from classic hereditary hemochromatosis. Ferroportin disease is caused by mutations in a different gene and is inherited in a different manner from other forms of hemochromatosis.

Ferroportin Disease Resources

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