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

• Early detection of individuals with hereditary hemochromatosis (HH) is important to manage iron levels and prevent future organ damage. Although theHFEmutations 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 theHFEgene. 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 performedHFEgenotyping, 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 theHFEgene and enables early treatment to prevent HH complications.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine (hsv//eng)

Nyckelord

Hereditary hemochromatosis

Screening program

Blood donors

HFE

serum ferritin concentrations

hereditary hemochromatosis

hfe

genotypes

population

c282y

prevalence

strategies

mutations

disease

h63d

Hematology

Publikations- och innehållstyp

ref (ämneskategori)

art (ämneskategori)