Evidence that the ancestral haplotype in Australian hemochromatosis patients may be associated with a common mutation in the gene.

D H Crawford, L W Powell, B A Leggett, J S Francis, L M Fletcher, S I Webb, J W Halliday, E C Jazwinska

Abstract read

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Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

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14citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

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3 · Its place in the literature

Who cites it

14 citing papers in PubMed.

HLA-A*03, the hemochromatosis ancestral haplotype, and phenotypes of referred hemochromatosis probands with HFE p.C282Y homozygosity.Hereditas · 2022
Article
Effects of highly conserved major histocompatibility complex (MHC) extended haplotypes on iron and low CD8+ T lymphocyte phenotypes in HFE C282Y homozygous hemochromatosis patients from three geographically distant areas.PloS one · 2013
Article
Dupuytren's Contracture in Alabama HFE Hemochromatosis Probands.Clinical medicine insights. Arthritis and musculoskeletal disorders · 2012
Article
Factors influencing disease phenotype and penetrance in HFE haemochromatosis.Human genetics · 2010
Review
Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients.Gut · 2006
Article
A study of 82 extended HLA haplotypes in HFE-C282Y homozygous hemochromatosis subjects: relationship to the genetic control of CD8+ T-lymphocyte numbers and severity of iron overload.BMC medical genetics · 2006
Article
Total blood lymphocyte counts in hemochromatosis probands with HFE C282Y homozygosity: relationship to severity of iron overload and HLA-A and -B alleles and haplotypes.BMC blood disorders · 2005
Article
Recent advances in understanding haemochromatosis: a transition state.Journal of medical genetics · 2004
Review
The origin and spread of the HFE-C282Y haemochromatosis mutation.Human genetics · 2004
Article
Duodenal expression of iron transport molecules in untreated haemochromatosis subjects.Gut · 2003
Article
Of metals, mice, and men: what animal models can teach us about body iron loading.The Journal of clinical investigation · 2000
Article
When less is more: gene loss as an engine of evolutionary change.American journal of human genetics · 1999
Review
The significance of haemochromatosis gene mutations in the general population: implications for screening.Gut · 1998
Article
Haplotype analysis of hemochromatosis: evaluation of different linkage-disequilibrium approaches and evolution of disease chromosomes.American journal of human genetics · 1997
Article

4 · The record

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5 · Who and what money

Authors and funding

8 authors.

D H CrawfordJoint Liver Program, Queensland Institute of Medical Research, Brisbane, Australia.

L W Powell

B A Leggett

J S Francis

L M Fletcher

S I Webb

J W Halliday

E C Jazwinska

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hemochromatosis (HC) is a common inherited disorder of iron metabolism for which neither the gene nor biochemical defect have yet been identified. The aim of this study was to look for clinical evidence that the predominant ancestral haplotype in Australian patients is associated with a common mutation in the gene. We compared indices of iron metabolism and storage in three groups of HC patients categorized according to the presence of the ancestral haplotype (i.e., patients with two copies, one copy, and no copies of the ancestral haplotype). We also examined iron indices in two groups of HC heterozygotes (those with the ancestral haplotype and those without) and in age-matched controls. These analyses indicate that (i) HC patients with two copies of the ancestral haplotype show significantly more severe expression of the disorder than those with one copy or those without, (ii) HC heterozygotes have partial clinical expression, which may be influenced by the presence of the ancestral haplotype in females but not in males, and (iii) the high population frequency of the HC gene may be the result of the selective advantage conferred by protecting heterozygotes against iron deficiency.

Indexed as

AdultAgedAnalysis of VarianceAustraliaFemaleHaplotypesHemochromatosisHeterozygoteHumansIronMaleMiddle AgedMutationIron

Identifiers

PMID7668262

PMCPMC1801553

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