Aims: Hemochromatosis is a condition in which iron loading impairs the function of many organs, including the heart. Congestive heart failure with left ventricular dilatation is commonly found in patients with hemochromatosis. Two missense mutations (C282Y and H63D) have been shown to be responsible for the majority of cases of hemochromatosis.
Methods and results: We examined 156 patients with congestive heart failure due to dilated cardiomyopathy. Details were recorded of clinical and echocardiographic parameters. DNA was extracted from peripheral blood and checked for the presence of the C282Y and H63D mutations by a commercially available single nucleotide primer extension assay. A control group of 98 healthy blood donors was also checked for the presence of these mutations. Of the 157 patients, 42 (26.75%) had at least one mutation. Five (3.65%) were homozygotic for the H63D mutation and 37 (23.6%) were heterozygotic for the H63D mutation. The C282Y mutation was not present. In a control population of 98 healthy blood donors, 27 (27.6%) were heterozygous for the H63D population and none had the C282Y mutation (no significant difference between the patients with cardiomyopathy and the healthy blood donors, chi(2) test 0.754). There was a non-significant trend to a difference in the prevalence of homozygotic H63D between the cardiomyopathy patients and the healthy blood donors (3.18% vs. 0%, P=0.076, chi(2) test). There was no statistically significant difference between the cardiomyopathy patients with and without the mutations in terms of age, gender, hemoglobin, iron, transferrin, ferritin, presence of diabetes mellitus, hypertension and previous coronary artery bypass grafting.
Conclusion: In our population of patients with dilated cardiomyopathy, there was no evidence for hemochromatosis being an important etiology.