Total blood lymphocyte counts in hemochromatosis probands with HFEC282Y homozygosity: relationship to severity of iron overload and HLA-A and -B alleles and haplotypes

Barton, James C.; Wiener, Howard W.; Acton, Ronald T.; Go, Rodney C.P.

doi:10.1186/1471-2326-5-5

Cited by 23 publications

(24 citation statements)

References 54 publications

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“…We were, however, unable to support such a hypothesis (14). An association between A1‐B8 and low lymphocyte counts has also been demonstrated (15, 47) but we agree with the opinion that it is hard to consider low lymphocyte counts as an advantageous trait (15). The A1‐B8 haplotype could also be a selective force, because despite a young age it has reached very high frequencies in several European control populations (5, 9, 28, 31).…”

Section: Discussionsupporting

confidence: 80%

“…Recent studies have, however, questioned these explanations because heterozygotes do not appear to absorb iron more efficiently (42, 45, 46). Selective advantages have also been associated with the haplotype that is hitchhiking with the C282Y mutation and one study suggested higher iron stores associated with A1‐B8 (47). We were, however, unable to support such a hypothesis (14).…”

Section: Discussionmentioning

confidence: 99%

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HLA haplotype map of river valley populations with hemochromatosis traced through five centuries in Central Sweden

Olsson

Ritter

Hansson³

et al. 2008

European J of Haematology

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River valley populations may contain HLA haplotypes reflecting their demographic history. This study has demonstrated that the resistance against recombinations between HLA-A and HFE make HLA haplotypes excellent markers for population movements. Founder effects and genetic drift from bottleneck populations (surviving the plague?) may explain the commonness of the mutation in central Scandinavia. The intergenerational time difference >30 yr was greater than expected and means that the age of the original mutation may be underestimated.

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Section: Discussionsupporting

confidence: 80%

Section: Discussionmentioning

confidence: 99%

HLA haplotype map of river valley populations with hemochromatosis traced through five centuries in Central Sweden

Olsson

Ritter

Hansson³

et al. 2008

European J of Haematology

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“…Some studies on patients with HFE -associated hemochromatosis indicate a decrease in circulating lymphocytes, with CD8+ cells being particularly affected (Barton et al 2005; Macedo et al 2010), but these abnormalities have not been observed consistently. Experimental iron overload in rodents is not associated with altered lymphocyte numbers, but has been suggested to affect proliferative and cytokine responses (Melo et al 1997; Mencacci et al 1997; Wu et al 1990).…”

Section: Iron and Adaptive Immunitymentioning

confidence: 99%

Iron and Immunity: Immunological Consequences of Iron Deficiency and Overload

Cherayil

2010

Arch. Immunol. Ther. Exp.

139

106

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The influence of iron on immune function has been long appreciated. However, the molecular basis for this interaction is less well understood. Recently, there have been several important advances that have shed light on the mechanisms that regulate mammalian iron metabolism. The new insights provide a conceptual framework for understanding and manipulating the cross-talk between iron homeostasis and the immune system. This article will review what is currently known about how disturbances of iron metabolism can affect immunity and how activation of the immune system can lead to alterations in iron balance.

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“…However, the observation of frequency disparities in HLA haplotypes A*03-B*07 in men and women may point to other genetic factors which regulate clinical expression in a gender-selective manner. (125)…”

Section: Key Developments In Hfe-hhmentioning

confidence: 99%

Hereditary hemochromatosis in the post- HFE era

et al. 2008

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Following the discovery of the HFE gene in 1996 and its linkage to the iron overload disorder hereditary hemochromatosis (HH) there have been profound developments in our understanding of the pathogenesis of the biochemical and clinical manifestations of a number of iron overload disorders. This article provides an update of recent developments and key issues relating to iron homeostasis and inherited disorders of iron overload, with emphasis on HFE-related HH, and is based on the content of the American Association for the Study of Liver Diseases Single-Topic Conference entitled "Hemochromatosis: What has Happened After HFE?" which was held at the Emory

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Total blood lymphocyte counts in hemochromatosis probands with HFEC282Y homozygosity: relationship to severity of iron overload and HLA-A and -B alleles and haplotypes

Abstract: Background: It has been reported that some persons with hemochromatosis have low total blood lymphocyte counts, but the reason for this is unknown.

Cited by 23 publications

References 54 publications

HLA haplotype map of river valley populations with hemochromatosis traced through five centuries in Central Sweden

HLA haplotype map of river valley populations with hemochromatosis traced through five centuries in Central Sweden

Iron and Immunity: Immunological Consequences of Iron Deficiency and Overload

Hereditary hemochromatosis in the post- HFE era

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