Prevalence of the C282Y mutation of the hemochromatosis gene in liver transplant recipients and donors

Hemochromatosis heterozygotes may be predisposed to end-stage liver disease from other causes, The aims of this study were to determine the prevalence of the hemochromatosis mutation, C282Y, in end-stage liver disease and to determine if transplantation of C282Y heterozygous livers adversely affecte d survival. The C282Y status of patients who underwent hepatic transplantat ion and, whenever possible, their donors, was determined and correlated wit h hepatic iron status. Survival was compared in patients who received liver s from heterozygotes and normals. Prevalence of C282Y in recipients was com pared with 5,211 voluntary blood donors. Twenty-six C282Y heterozygotes wer e detected among 304 transplant recipients (8.6%) compared with a prevalenc e of 8.4% in blood donors. Six of 26 heterozygous recipients (23%) had grea ter than or equal to 2+ iron staining in their explanted livers compared wi th 40 of 277 wild-type livers (14%) (P = ns), There was no significant diff erence in mean hepatic iron concentration between C282Y heterozygotes and w ild-type explanted livers with greater than or equal to 2+ iron staining. S even of 31 patients (23%) with alcoholic liver disease were C282Y heterozyg otes, Twenty-four heterozygotes were detected in 141 donors (17.0%). Surviv al did not differ between recipients who received heterozygous or normal li vers. The prevalence of C282Y heterozygotes in patients requiring liver tra nsplantation does not differ significantly from the general population. Het erozygotes are not at increased risk of developing end-stage liver disease, Transplantation of C282Y heterozygous livers is a safe, effective practice .