Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene☆
VR Gordeuk, A Caleffi, E Corradini, F Ferrara… - Blood Cells, Molecules …, 2003 - Elsevier
The product of the SLC40A1 gene, ferroportin 1, is a main iron export protein. Pathogenic
mutations in ferroportin 1 lead to an autosomal dominant hereditary iron overload syndrome
characterized by high serum ferritin concentration, normal transferrin saturation, iron
accumulation predominantly in macrophages, and marginal anemia. Iron overload occurs in
both the African and the African-American populations, but a possible genetic basis has not
been established. We analyzed the ferroportin 1 gene in 19 unrelated patients from southern …
mutations in ferroportin 1 lead to an autosomal dominant hereditary iron overload syndrome
characterized by high serum ferritin concentration, normal transferrin saturation, iron
accumulation predominantly in macrophages, and marginal anemia. Iron overload occurs in
both the African and the African-American populations, but a possible genetic basis has not
been established. We analyzed the ferroportin 1 gene in 19 unrelated patients from southern …
