Using iron studies to predict <i><scp>HFE</scp></i> mutations in New Zealand: implications for laboratory testing

O'Toole, Rebecca; Romeril, Kenneth; Bromhead, Collette

doi:10.1111/imj.13360

Cited by 1 publication

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References 27 publications

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“…Similar screening studies have employed varying cutoff levels, ranging between TS > 45 and TS > 55%. In retrospect, it would have been useful to have had a lower cutoff of TS > 45% in the SIOS to better evaluate the varying cutoff levels that have been used in previous studies, and also because recent findings have shown that TS > 45% may be the best cutoff point for identifying C282Y homozygotes [ 15 ], which is also reflected in recent recommendations [ 16 ]. Nonetheless, the screening method employed in the SIOS using TS > 50% yielded a group with high prevalence of C282Y homozygotes.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of a screening program for iron overload andHFE mutations in 50,493 blood donors

et al. 2020

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Early detection of individuals with hereditary hemochromatosis (HH) is important to manage iron levels and prevent future organ damage. Although the HFE mutations that cause most cases of HH have been identified, their geographic distribution is highly variable, and their contribution to iron overload is not fully understood. All new registered blood donors at the Sahlgrenska University hospital between 1998 and 2015 were included in the study. Donors with signs of iron overload at baseline and subsequent follow-up testing were recommended genotyping of the HFE gene. Of the 50,493 donors that were included in the study, 950 (1.9%) had signs of iron overload on both test occasions. Of the 840 donors with iron overload that performed HFE genotyping, 117 were homozygous for C282Y, and 97 were compound heterozygotes. The prevalence of C282Y homozygosity was 0.23%. Iron overload screening effectively detects individuals at risk of carrying the C282Y mutation of the HFE gene and enables early treatment to prevent HH complications.

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Section: Discussionmentioning

confidence: 99%