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- W4380201272 abstract "Hereditary Hemochromatosis (HH) is the most common inherited disease in European populations. It is particularly common in people of Irish heritage, approximately 2% of whom will be at risk of iron overload as a result of human homeostatic iron regulator protein (HFE) gene mutations. We aimed to evaluate the utility of screening for HH in newly-referred patients with DM of Irish heritage in a prospective study. Of 575 patients newly-referred between March 2018 and March 2021, 556 attended for blood testing, to include fasting transferrin saturations, prior to their first clinic visit. Patients with elevated transferrin saturations were further screened for hereditary haemochromatosis (HH) with HFE gene analysis. Transferrin saturations were elevated in 13 of 556 patients (2.3%), 3 of whom had a pre-existing diagnosis of HH. Of the remaining 10 patients, 7 had HFE gene mutations suggestive of HH (2 C282Y homozygous, 3 C282Y/H63D compound heterozygous and 2 H63D homozygous), 1 was a HH carrier (C282Y heterozygous) and 2 had normal genetics. The prevalence of HH of 1.8% in this screened DM population is lower than the reported incidence of HH in the Irish population, suggesting a limited utility of routine screening for HH in newly-referred patients with DM." @default.
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- W4380201272 date "2023-06-01" @default.
- W4380201272 modified "2023-09-26" @default.
- W4380201272 title "Screening for Hereditary Haemochromatosis in Newly-Referred Diabetes Mellitus" @default.
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- W4380201272 doi "https://doi.org/10.1016/j.ajmo.2023.100046" @default.
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