Molecular genetics of hemochromatosis

C. Camaschella, A. Roetto, L. Sbaiz, I. Dianzani, G. De Sandre, A. Totaro, A. Piperno, P. Gasparini

Research output: Contribution to journalArticlepeer-review


Hemochromatosis (HC) is an inherited recessive disorder, due to excessive iron absorption, which causes iron overload in adult life. The biochemical defect of the disease is unknown. No cytogenetic abnormality is known to favour gene location. The tight linkage of HC with HLA-A locates the gene on the short arm of chromosome 6. The study of allelic association of molecular markers close to HLA class I in HC families in different populations has refined the gene position on this chromosome. Notwithstanding progress in physical mapping of the HLA region, the production of several polymorphic markers and identification of sequences from the same regions transcribed in the duodenal mucosa the HC gene still remain elusive. The identification of the gene and of its molecular defects will represent a major advance towards the screening of populations at risk and the understanding of physiologic mechanisms of iron metabolism.

Original languageEnglish
Pages (from-to)117-119
Number of pages3
JournalBulletin of Molecular Biology and Medicine
Issue number3-4
Publication statusPublished - 1995

ASJC Scopus subject areas

  • Clinical Biochemistry


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