Iron overload and cirrhosis in referred HFE p.C282Y homozygotes with normal transferrin saturation and elevated serum ferritin.

ABSTRACT:

Background

levated transferrin saturation (TS) is an imperfect test to identify adults with high-iron gene (HFE) p.C282Y homozygosity or elevated hepatic iron concentration.

Methods

e analyzed observations of non-screening, previously untreated p.C282Y homozygotes who presented with both normal TS (<50% men, <45% women) and elevated serum ferritin (SF; men, >300 µg/L; women, >200 µg/L). Iron overload was defined as hepatocyte iron grade 3 or 4, liver iron >35 µmol/g dry weight, or iron removed by phlebotomy ≥3 g. Cirrhosis was defined as regenerating nodules of hepatocytes surrounded by bands of fibrous connective tissue.

Results

mong 917 referred p.C282Y homozygotes, 58 (33 men, 25 women) had normal TS and elevated SF (6.3% [95% CI 4.9% to 8.1%]). Of 58 patien

SUBMITTER: Adams PC 

PROVIDER: S-EPMC9202789 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature