Published in:
Open Access
01-10-2020 | Original Article
Evaluation of a screening program for iron overload andHFE mutations in 50,493 blood
donors
Authors:
Carl Eckerström, Sofia Frändberg, Lena Lyxe, Cecilia Pardi, Jan Konar
Published in:
Annals of Hematology
|
Issue 10/2020
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Abstract
Early detection of individuals with hereditary hemochromatosis (HH) is
important to manage iron levels and prevent future organ damage. Although theHFE 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.