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 affected survival. The C282Y status of patients who underwent hepatic transplantation and, whenever possible, their donors, was determined and correlated with hepatic iron status. Survival was compared in patients who received livers from heterozygotes and normals. Prevalence of C282Y in recipients was compared with 5,211 voluntary blood donors. Twenty-six C282Y heterozygotes were detected among 304 transplant recipients (8.6%) compared with a prevalence of 8.4% in blood donors. Six of 26 heterozygous recipients (23%) had >/=2+ iron staining in their explanted livers compared with 40 of 277 wild-type livers (14%) (P = ns). There was no significant difference in mean hepatic iron concentration between C282Y heterozygotes and wild-type explanted livers with >/=2+ iron staining. Seven of 31 patients (23%) with alcoholic liver disease were C282Y heterozygotes. Twenty-four heterozygotes were detected in 141 donors (17.0%). Survival did not differ between recipients who received heterozygous or normal livers. The prevalence of C282Y heterozygotes in patients requiring liver transplantation does not differ significantly from the general population. Heterozygotes are not at increased risk of developing end-stage liver disease. Transplantation of C282Y heterozygous livers is a safe, effective practice.