Literature DB >> 3260461

Is all genetic (hereditary) hemochromatosis HLA-associated.

L W Powell1, M L Bassett, E Axelsen, J Ferluga, J W Halliday.   

Abstract

1. GH in Australia is significantly associated with the HLA-A3 antigen, which is the only independent marker for the disease (B7 in linkage disequilibrium with A3). 2. The haplotype A3, B7, DR2 is the only one with increased prevalence in this disease, presumably due to its being the predominant haplotype among early immigrants. 3. Exceptions to HLA association in GH are rare and can be explained by: (1) incorrect HLA serotyping, (2) chromosomal recombination, or (3) rare homozygous-homozygous mating. 4. These data are consistent with GH being due to a mutant gene or genes in close proximity to HLA-A. 5. Heavy alcohol ingestion does not lead to expression of hemochromatosis in heterozygous subjects.

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Year:  1988        PMID： 3260461     DOI： 10.1111/j.1749-6632.1988.tb55489.x

Source DB:  PubMed          Journal:  Ann N Y Acad Sci        ISSN： 0077-8923            Impact factor:   5.691


  10 in total

Review 1.  Hereditary (primary) haemochromatosis.

Authors:  N D Finlayson
Journal:  BMJ       Date:  1990 Aug 18-25

2.  Linkage disequilibrium and extended haplotypes in the HLA-A to D6S105 region: implications for mapping the hemochromatosis gene (HFE).

Authors:  G Gandon; A M Jouanolle; B Chauvel; V Mauvieux; A le Treut; J Feingold; J Y Le Gall; V David; J Yaouanq
Journal:  Hum Genet       Date:  1996-01       Impact factor: 4.132

3.  Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE)

Authors:  J Yaouanq; M Perichon; M Chorney; P Pontarotti; A Le Treut; A el Kahloun; V Mauvieux; M Blayau; A M Jouanolle; B Chauvel
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025

4.  Non-C282Y familial iron overload: evidence for locus heterogeneity in haemochromatosis.

Authors:  S Pinson; J Yaouanq; A M Jouanolle; B Turlin; H Plauchu
Journal:  J Med Genet       Date:  1998-11       Impact factor: 6.318

5.  Anonymous markers located on chromosome 6 in the HLA-A class I region: allelic distribution in genetic haemochromatosis.

Authors:  J Boretto; A M Jouanolle; J Yaouanq; A el Kahloun; V Mauvieux; M Blayau; M Perichon; A Le Treut; J Clayton; N Borot
Journal:  Hum Genet       Date:  1992-04       Impact factor: 4.132

6.  Familial screening for genetic haemochromatosis by means of DNA markers.

Authors:  J Yaouanq; A el Kahloun; M Chorney; A M Jouanolle; V Mauvieux; M Perichon; M Blayau; P Pontarotti; J Y Le Gall; V David
Journal:  J Med Genet       Date:  1992-05       Impact factor: 6.318

7.  Neurofibromatosis type 1 (NF1): knowledge, experience, and reproductive decisions of affected patients and families.

Authors:  C M Benjamin; A Colley; D Donnai; H Kingston; R Harris; L Kerzin-Storrar
Journal:  J Med Genet       Date:  1993-07       Impact factor: 6.318

8.  HLA determinants in an Australian population of hemochromatosis patients and their families.

Authors:  K M Summers; K S Tam; J W Halliday; L W Powell
Journal:  Am J Hum Genet       Date:  1989-07       Impact factor: 11.025

9.  Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.

Authors:  M Carella; L D'Ambrosio; A Totaro; A Grifa; M A Valentino; A Piperno; D Girelli; A Roetto; B Franco; P Gasparini; C Camaschella
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

10.  HLA-A and -B alleles and haplotypes in hemochromatosis probands with HFE C282Y homozygosity in central Alabama.

Authors:  James C Barton; Ronald T Acton
Journal:  BMC Med Genet       Date:  2002-10-07       Impact factor: 2.103
  10 in total

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