Hunting the hemochromatosis gene: Progress and problems

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Hereditary hemochromatosis (HFE) is an inherited recessive disorder which causes progressive iron overload. Homozygotes for the affected gene develop symptoms of parenchymal organ damage and especially liver cirrhosis in midlife. Early diagnosis is important in order to prevent symptoms. The protein responsible for the increased iron absorption is unknown. The tight association of the disease gene with HLA-A has been known for nearly 20 years but its precise localization remains uncertain. Linkage and linkage disequilibrium analyses in different populations have focussed on two possible locations of the gene either very close to HLA-A or at the telomeric site of 6p in the vicinity of the D6S105 marker.

Original languageEnglish
Pages (from-to)141-147
Number of pages7
JournalEuropean Journal of Human Genetics
Volume2
Issue number3
Publication statusPublished - 1994

Fingerprint

Hemochromatosis
HLA-A Antigens
Genes
Iron Overload
Linkage Disequilibrium
Homozygote
Liver Cirrhosis
Early Diagnosis
Iron
Population
Proteins

Keywords

  • hemochromatosis
  • iron
  • linkage analysis
  • positional cloning

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Hunting the hemochromatosis gene : Progress and problems. / Camaschella, C.; Gasparini, P.

In: European Journal of Human Genetics, Vol. 2, No. 3, 1994, p. 141-147.

Research output: Contribution to journalArticle

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