Risk of iron overload in carriers of genetic mutations associated with hereditary haemochromatosis: UK Food Standards Agency workshop.
نویسندگان
چکیده
The UK Food Standards Agency convened a group of expert scientists to review current research investigating diet and carriers of genetic mutations associated with hereditary haemochromatosis. The workshop concluded that individuals who are heterozygous for the C282Y mutation of the HFE gene do not appear to respond abnormally to dietary Fe and therefore do not need to change their diet to prevent accumulation of body Fe.
منابع مشابه
A simple genetic test identifies 90% of UK patients with haemochromatosis. The UK Haemochromatosis Consortium.
BACKGROUND The diagnosis of genetic haemochromatosis (GH) before iron overload has developed is difficult. However a convincing candidate gene for GH, HFE (previously HLA-H), has been described recently. AIMS To determine the prevalence of the haemochromatosis associated HFE mutations C282Y and H63D in United Kingdom affected and control populations. METHODS The prevalence of the HFE C282Y ...
متن کاملEASL International Consensus Conference on Haemochromatosis.
Iron overload diseases are frequent conditions associated with hereditary or secondary disturbances of iron metabolism. Hereditary haemochromatosis (HC), which is characterised by a genetic predisposition to absorb excess iron from the diet, is the most frequent form of genetic iron overload and one of the most common hereditary metabolic diseases in Caucasians. Individuals with mutations in th...
متن کاملHereditary hyperferritinaemia-cataract syndrome and differential diagnosis of hereditary haemochromatosis.
Hereditary hyperferritinaemia-cataract syndrome (HHCS) is a rare differential diagnosis of hereditary haemochromatosis. It should be suspected in patients with raised ferritin levels, but no evidence of iron overload, and in the absence of mutations in the HFE gene. Awareness of this condition prevents unnecessary liver biopsies and allows accurate genetic counselling since HHCS is an autosomal...
متن کاملGlobal prevalence of putative haemochromatosis mutations.
Haemochromatosis is a genetic disease associated with progressive iron overload, and is common among populations of northern European origin. HLA-H is a recently reported candidate gene for this condition. Two mutations have been identified, a substitution of cysteine for tyrosine at amino acid 282 (C282Y, nucleotide 845) and of histidine for aspartate at amino acid 63 (H63D, nucleotide 187). O...
متن کاملThe recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.
The most common form of hereditary haemochromatosis is an adult-onset condition usually associated with the HFE C282Y/C282Y genotype. The phenotypic expression of this genotype is heterogeneous and depends on a complex interplay of genetic and non-genetic factors. The aim of the present study was to determine if mutations in the recently identified HJV gene were associated with more severe iron...
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عنوان ژورنال:
- The British journal of nutrition
دوره 96 4 شماره
صفحات -
تاریخ انتشار 2006