Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans

Blood Cells Mol Dis. Nov-Dec 2003;31(3):305-9. doi: 10.1016/s1079-9796(03)00165-7.


We find that in the Black American population average ferritin levels are higher than those in Whites, both among men and women. African-Americans have an increased prevalence of iron storage disease characterized by prominent iron deposition in macrophages of the liver and other organs. The iron distribution in patients with mutations of the ferroportin gene is similar. A c.744 G-->T (Gln 248 His) mutation was detected among African-Americans at polymorphic frequencies. This variant is associated with increased ferritin levels in African-Americans and may play a role in their propensity to develop iron overload.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Africa / ethnology
  • African Americans / genetics*
  • Aging / blood
  • Cation Transport Proteins / genetics*
  • European Continental Ancestry Group
  • Female
  • Ferritins / blood
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Humans
  • Iron Overload / blood
  • Iron Overload / genetics*
  • Male
  • Mutation / genetics*
  • Mutation, Missense / genetics
  • Polymorphism, Genetic / genetics
  • Sex Characteristics


  • Cation Transport Proteins
  • metal transporting protein 1
  • Ferritins