Tissue Antigens. 1978 May;11(5):471-4.

Idiopathic hemochromatosis: linkage with HLA.

Lipinski M, Hors J, Saleun JP, Saddi R, Passa P, Lafaurie S, Feingold N, Dausset J.

Abstract

Forty-eight unrelated patients with idiopathic hemochromatosis were found to have a significantly higher frequency of three HLA antigens (A3, B7 and B14) than 591 healthy controls. A significant association between HLA haplotypes and disease segregations was demonstrated in 14 family studies. A recessive inheritance of a strongly A3-linked disease gene responsible for abnormal iron stores in the heterozygote state is postulated. The lod score value (4.415 for theta = 0.025) is compatible with this hypothesis. However, the excess of HLA-identical pairs of affected sibs does not exclude the possibility of a pseudo-recessiveness due to two codominant genes both HLA-linked. For the first time, a means of screening for high risk subjects is available and therefore offers the possibility of a preventive approach.

PMID:: 694909; [PubMed - indexed for MEDLINE]

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A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association. [Am J Hum Genet. 1987]
A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association.
Simon M, Le Mignon L, Fauchet R, Yaouanq J, David V, Edan G, Bourel M. Am J Hum Genet. 1987 Aug; 41(2):89-105.
[Idiopathic hemochromatosis. Immunogenetics and diagnosis. Prevention by HLA genotypes]. [Pathol Biol (Paris). 1986]
[Idiopathic hemochromatosis. Immunogenetics and diagnosis. Prevention by HLA genotypes].
Fauchet R, Lemignon L, Bourel M, Genetet B, Simon M. Pathol Biol (Paris). 1986 Jun; 34(6):715-21.
[Idiopathic hemochromatosis linkage with the HLA system (author's transl)]. [Diabete Metab. 1978]
[Idiopathic hemochromatosis linkage with the HLA system (author's transl)].
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Review [Correlation of HLA antigens and idiopathic hemochromatosis in Hungary].
Czink E, Gyódi E, Német K, Hollán Z. Orv Hetil. 1991 Feb 24; 132(8):409-10, 413-5.
Review Genetics of haemochromatosis. [Baillieres Clin Haematol. 1994]
Review Genetics of haemochromatosis.
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Cited by 5 PubMed Central articles

Haplotype analysis of hemochromatosis: evaluation of different linkage-disequilibrium approaches and evolution of disease chromosomes. [Am J Hum Genet. 1997]
Haplotype analysis of hemochromatosis: evaluation of different linkage-disequilibrium approaches and evolution of disease chromosomes.
Ajioka RS, Jorde LB, Gruen JR, Yu P, Dimitrova D, Barrow J, Radisky E, Edwards CQ, Griffen LM, Kushner JP. Am J Hum Genet. 1997 Jun; 60(6):1439-47.
Association of HLA-linked hemochromatosis with idiopathic refractory sideroblastic anemia. [J Clin Invest. 1980]
Association of HLA-linked hemochromatosis with idiopathic refractory sideroblastic anemia.
Cartwright GE, Edwards CQ, Skolnick MH, Amos DB. J Clin Invest. 1980 May; 65(5):989-92.
The use of association data to identify family members at high risk for marker-linked diseases. [Am J Hum Genet. 1984]
The use of association data to identify family members at high risk for marker-linked diseases.
Conte WJ, Rotter JI. Am J Hum Genet. 1984 Jan; 36(1):152-66.

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Idiopathic hemochromatosis: linkage with HLA.

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Cited by 5 PubMed Central articles

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