Iron storage disease in parents and sibs of infants with neonatal hemochromatosis: 30-year follow-up

Am J Med Genet. 1990 Nov;37(3):342-5. doi: 10.1002/ajmg.1320370310.

Abstract

Neonatal hemochromatosis (NH), an uncommon and generally fatal disorder of infancy, is defined by hepatic disease of antenatal onset, generally manifest at birth, and by stainable iron in a tissue distribution like that seen in heritable adult-onset hemochromatosis (HH). It is not known if parents and sibs of infants with NH are at risk of iron storage disease in later life. We provide 30-year follow-up for iron overload of a family in which 6 of 9 children died in utero or early in the neonatal period. Four of the 6 came to autopsy, where severe liver disease was found; in 3 of the 4, autopsy material could be reviewed. These 3 children had NH. Studies 30 years later did not identify HH or other iron storage disease in the parents or surviving sibs. These findings suggest that first-degree relatives of persons with NH are not necessarily at increased risk of iron storage disease in later life.

Publication types

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

MeSH terms

  • Aging
  • Female
  • Follow-Up Studies
  • Hemochromatosis / genetics*
  • Humans
  • Iron / metabolism*
  • Male
  • Metal Metabolism, Inborn Errors / genetics*
  • Pedigree

Substances

  • Iron