A juvenile hemochromatosis patient homozygous for a novel deletion of cDNA nucleotide 81 of hemojuvelin

Background: A 25-year-old woman of English/Irish background was diagnosed with hemochromatosis. She manifested hypogonadotrophic hypogonadism and congestive heart failure. Although there were abnormal liver function tests, no cirrhosis was present. The patient has been treated intermittently by phlebotomy for 24 years. The aim of this study was to investigate the genetic basis of the patient's iron overload disease. Methods: Genetic analysis was performed by direct sequencing of the genes for hemojuvelin, HFE, hepcidin, ferroportin and transferrin receptor 2. Results and Conclusions: Molecular analysis showed that the patient was homozygous for a previously undescribed mutation of HJV, the gene encoding hemojuvelin. This mutation, nt 81G deletion, causes a frameshift encoding 23 additional irrelevant amino acids and premature termination. No mutations were found in the other hemochromatosis genes, hepcidin, HFE, ferroportin or transferrin receptor 2, which might have contributed to her iron overload. Copyright (C) 2006 S. Karger AG, Basel.