Evaluation of a screening program for iron overload and HFE mutations in 50,493 blood donors
- PDF / 348,957 Bytes
- 7 Pages / 595.276 x 790.866 pts Page_size
- 53 Downloads / 156 Views
ORIGINAL ARTICLE
Evaluation of a screening program for iron overload and HFE mutations in 50,493 blood donors Carl Eckerström 1,2
&
Sofia Frändberg 1 & Lena Lyxe 1 & Cecilia Pardi 1 & Jan Konar 1
Received: 16 January 2020 / Accepted: 14 June 2020 / Published online: 26 August 2020 # The Author(s) 2020
Abstract 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. Keywords Hereditary hemochromatosis . Screening program . Blood donors . HFE
Introduction Hereditary hemochromatosis (HH) is caused by mutations in the HFE gene, leading to a low production of hepcidin resulting in high uptake of iron from the intestine [1]. The subsequent iron-overload is often asymptomatic but may, left untreated, lead to liver cirrhosis, diabetes mellitus, hypothyroidism, cardiac arrhythmia and arthropathy [1]. The risk of developing sequelae is further increased by environmental factors such as excessive alcohol consumption and obesity [2]. Individuals homozygous for C282Y make up only 0.4% of the population [3], but many of them will gradually accumulate iron and eventually develop symptoms of the disease. The overwhelming majority of patients with HH are either C282Y homozygotes or C282Y/H63D compound heterozygotes.
* Carl Eckerström [email protected] 1
Department of Immunology and Transfusion medicine Region, Sahlgrenska University Hospital, Västra Götaland, Sweden
2
Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden
Around 70% of C282Y homozygotes have biochemical signs of iron overload, with levels between 73 and 94% reported in males and 55 and 69% in females [4–7]. However, it should be noted that these studies have used different cutoff levels for the definition of iron overload. Early identification of individuals with HH is important, allowing for monitoring of iron levels and the application of therapeutic phlebotomy when needed to avoid further complications of the disease [8]. Presently, population screening for HFE mutation is not recommended due to unfavourable cost-benefit ratio [3]. Evaluations of
Data Loading...
