Literature DB >> 9753041

Is there a link between African iron overload and the described mutations of the hereditary haemochromatosis gene?

L McNamara1, A P MacPhail, V R Gordeuk, S J Hasstedt, T Rouault.   

Abstract

Over 80%, of Caucasian patients with hereditary haemochromatosis are homozygotes for a C282Y mutation in the HFE gene on chromosome 6. Recent evidence suggests that a genetic factor may also be involved in the pathogenesis of African iron overload, although the locus has not been described. PCR analysis of DNA from 25 southern Africans, identified by segregation analysis as having a high probability of carrying the putative African iron-loading gene, failed to identify any subjects with the C282Y mutation. The possible genetic defect in African iron overload appears to be different from that described in most cases of hereditary haemochromatosis in Caucasians.

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Year:  1998        PMID: 9753041     DOI: 10.1046/j.1365-2141.1998.00917.x

Source DB:  PubMed          Journal:  Br J Haematol        ISSN: 0007-1048            Impact factor:   6.998


  5 in total

1.  SLC40A1 Q248H allele frequencies and Q248H-associated risk of non-HFE iron overload in persons of sub-Saharan African descent.

Authors:  James C Barton; Ronald T Acton; Pauline L Lee; Carol West
Journal:  Blood Cells Mol Dis       Date:  2007-05-09       Impact factor: 3.039

Review 2.  Iron overload cardiomyopathy: better understanding of an increasing disorder.

Authors:  Pradeep Gujja; Douglas R Rosing; Dorothy J Tripodi; Yukitaka Shizukuda
Journal:  J Am Coll Cardiol       Date:  2010-09-21       Impact factor: 24.094

3.  Basal endocrine status in African dietary iron overload.

Authors:  Lynette McNamara; Vanessa R Panz; Frederick J Raal; Janice Paiker; Barry I Joffe; Victor R Gordeuk; A Patrick MacPhail
Journal:  Endocrine       Date:  2003-08       Impact factor: 3.633

4.  Iron regulation of the major virulence factors in the AIDS-associated pathogen Cryptococcus neoformans.

Authors:  Won Hee Jung; Anita Sham; Rick White; James W Kronstad
Journal:  PLoS Biol       Date:  2006-11       Impact factor: 8.029

5.  Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis.

Authors:  Paulo Lisboa Bittencourt; Maria Lúcia Carnevale Marin; Cláudia Alves Couto; Eduardo Luiz Rachid Cançado; Flair José Carrilho; Anna Carla Goldberg
Journal:  Clinics (Sao Paulo)       Date:  2009       Impact factor: 2.365

  5 in total

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