An HLA‐All Assoiciation with the hemochromatosis allele?

The metabolic error involved in idiopathic hemochromatosis, as well as the underlying genetic defect remain unknown. It has, however, been recently shown that this genetic lesion occurs at a locus linked to the major histocompatibility complex, probably close to the HLA-A locus, and that the disease is recessively transmitted. Therefore, in a family where one subject has idiopathic hemochromatosis his HLA-identical siblings should also be affected. We present here the restriction polymorphism with two MHC class I probes and one DR beta probe in an exceptional family with three HLA-identical siblings: one (the proband) has a major form of idiopathic hemochromatosis, while the other two are free of any clinical or biochemical signs of the disease. The restriction patterns observed after DNA digestion by enzymes EcoRI, EcoRV, BglII, BamHI, PvuII, TaqI, HincII, and HindIII led to the conclusion that one of the proband's chromosome 6 had undergone two alterations: one, a deletion in the DR region, was revealed by missing fragments all correlated with DR5; the other was an unbalanced cross-over or a genetic conversion in the MHC class I region. This latter alteration was revealed by modifications in the patterns of high molecular weight HindIII bands which hybridize with probe pHLA2 and also by the absence of a HindIII fragment of 7.4 kb hybridized by another class I probe. This latter alteration most likely involved the hemochromatosis gene and could be the first step toward a molecular approach to this gene.

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DNA polymorphism related to the idiopathic hemochromatosis gene: evidence in a recombinant family

David

Paul

Simon

et al. 1986

Hum Genet

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Non-HLA-linked hemochromatosis in a Chinese woman

et al. 1995

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A 55 year-old Chinese woman is described with severe iron overload similar in degree and distribution to that seen in hereditary hemochromatosis in the Caucasian population. Autopsy findings confirmed severe iron overload in the liver, pancreas, skin, heart, and endocrine organs. Hepatic iron concentration was 482 mumol/g with a hepatic iron index of 8.8. There was no history of thalassemia, transfusions, or alcohol abuse. Pedigree analysis revealed two HLA identical brothers that had no clinical or biochemical evidence of iron overload. This case is an unusual example of severe iron overload in a non-Caucasian kindred and may represent a non-HLA-linked form of iron overload.

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A molecular analysis of the telomeric end of the major histocompatibility complex

et al. 1995

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An HLA‐All Assoiciation with the hemochromatosis allele?

Cited by 9 publications

References 16 publications

DNA polymorphism related to the idiopathic hemochromatosis gene: evidence in a recombinant family

DNA polymorphism related to the idiopathic hemochromatosis gene: evidence in a recombinant family

Non-HLA-linked hemochromatosis in a Chinese woman

A molecular analysis of the telomeric end of the major histocompatibility complex

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