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Hum Mol Genet. 2003 Jun 15;12(12):1361-5.

Typical type 2 diabetes mellitus and HFE gene mutations: a population-based case - control study.

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Department of Clinical Biochemistry, Addenbrooke's NHS Trust, Cambridge CB2 2QR, UK.


Diabetes mellitus is a recognized consequence of hereditary haemochromatosis. Whether the common HFE mutations, that associate with this condition and pre-dispose to increases in serum iron indices, are over-represented in diabetic populations remains controversial. We present data from the largest case-control study of the C282Y and H63D HFE allele frequencies in typical type 2 diabetes mellitus, as defined by an age of onset greater than 30 years and no requirement for insulin in the first year post-diagnosis. We also present a meta-analysis of all similar studies to date. We see no evidence for over-representation of iron loading HFE alleles in type 2 diabetes mellitus, suggesting that screening for HFE mutations in this population is of no value.

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