The haemochromatosis mutations do not modify the clinical picture of thalassaemia major in patients regularly transfused and chelated

Iron overload is the main cause of morbidity and mortality in patients with thalassaemia major In order to establish if the presence of the mutations recently described in the haemochromatosis gene affects the severity of iro n overload in thalassaemia patients, we compared the prevalence of mutation s C282Y and H63D in 216 young adults regularly transfused and chelated in N orth-Eastern Italy with the frequency found in a group of blood donors from the same area. For each patient, mean serum ferritin over the last 3 years , liver iron concentration, and the presence of diabetes, hypogonadism and heart disease. were considered. The frequency of the C282Y allele was 1.9% in patients with thalassaemia major and 2.3% in blood donors (P=ns). The fr equency of the H63D allele was 16.2% in patients with thalassaemia major an d 15.3% in blood donors (P=ns). When age. liver iron concentration and mean yearly serum ferritin levels were compared in patients with and without mu tations C282Y and H63D, no significant differences were found. Also, the pr evalence of iron-induced complications was not significantly different betw een patients carrying or not carrying the mutations. The presence of the WH mutations does not seem to influence the degree of iron overload and its c onsequences in regularly transfused and chelated patients with thalassaemia major.