Recherche des mutations de lˈhémochromatose dans une série de 1 615 patients présentant une surcharge sérique en fer

Abstract

To establish the genetic component due to hemochromatosis, mutations were studied in a serie of patients characterized by elevated values of seric iron. Between December 1999 and September 2000, 1,615 consecutive patients were addressed to the Laboratory, with at least one elevated value of the iron status. After extraction of the genomic DNA from a total blood, we have detected by the PCR technique the main mutation ( C282Y) and the secondary mutation ( H63D) of the hemochromatosis gene, simultaneously in these patients. On the 1,615 patients, 157 (9.7%) are C282Y homozygous ; they correspond to true cases of genetic hemochromatosis. 141 of the patients (8.7%) are compound heterozygous C282Y/H63D, and they can correspond to some form of genetic hemochromatosis also (resulting to some kind of interaction between the two mutations). 259 patients (16%) are C282Y heterozygous, and their genetic status, determinated however, is relatively not understanded for the moment. In the presence of an elevated value of the iron status, further study of the hemochromatosis gene mutations permits to determinate the genetic component of the corresponding patients.