A SIMPLE GENETIC TEST IDENTIFIES 90-PERCENT OF UK PATIENTS WITH HEMOCHROMATOSIS

Background-The diagnosis of genetic haemochromatosis (GH) before iron overload has developed is difficult. However a convincing candidate ge ne for GH, HFE (previously HLA-H), has been described recently. Aims-T o determine the prevalence of the haemochromatosis associated HFE muta tions C282Y and H63D in United Kingdom affected and control population s. Methods-The prevalence of the HFE C282Y and H63D mutations was dete rmined by polymerase chain reaction amplification and restriction enzy me digestion in a cohort of 115 well characterised patients with GH an d 101 controls from the United Kingdom. Results-One hundred and five o f 115 (91%) patients with GH were homozygous for the C282Y mutation. O nly one of 101 (1%) controls was homozygous for the C282Y mutation and this individual currently shows evidence of iron overload. Two of fiv e patients who did not have either of the two described mutations of H FE had early onset iron overload (ages 16 and 24). One had a family hi story of cardiac failure and the second was subsequently hospitalised due to cardiac failure. These are the first phenotypic observations fo r patients without either C282Y or H63D mutation of HFE. Conclusion-Th is simple genetic test promises to be a highly effective tool in the d iagnosis of GH.