Concern for iron storage disease, hemochromatosis, is shared through The New England Journal of Medicine.

Concern for iron storage disease, hemochromatosis, is shared through The New England Journal of Medicine. The iron storage disease known as hemochromatosis is not a rare condition. Indeed, in the practice of Dr Antonio Gordon there are several patients who have this disorder and are currently being treated for it. However, it was thought that the disease only occurred in certain genetics clusters and African tribes, like the Bantus of South Africa. Now, there is evidence elsewhere. A gene responsible for hereditary hemochromatosis (HFE) has been identified, results of a study in the September 2nd issue of The New England Journal of Medicine show that the clinical condition can occur in some patients who do not have mutations in this gene. The Australian researchers responsible for this reports also noted that an unsuspected and substantial proportion of patients who have the HFE gene mutation do not have clinical features of hemochromatosis. The former findings comes from Dr. Antonello Pietrangelo, of the University of Modena in Italy, and colleagues. They report on a study of one patient with hemochromatosis and 52 of his relatives. Fifteen of them had transferrin saturation above 50%, abnormal ferritin levels, or both. Transferrin is an iron binding protein the serum. In the other study, Dr. John K. Olynyk, of the University of Western Australia in Fremantle, and colleagues genotyped some 3,000 people, about one-third of the town of Busselton, Australia. In this sample, 16 people--0.5% of the population--was homozygous for the C282Y mutation in the HFE gene, they report. It is interesteding to speculate that in the practice of the Gordon Clinic, with roughly 5,000 patients, there are two patients who have been found to have documented hemochromatosis. The diagnoses were established through the use of liver biopsy which is the so-called gold standard for this disease. Obviously, the prevalence of this new hemochromatosis genre, the C282Y gene, is not known in Hispanics, Cuban Americans are South Florida populations. Further investigation is obviously needed in a community like ours where diabetes and chronic liver disease abound. These are among the clinical hallmarks of hemochromatosis, abnormal glucose metabolism, liver disease from mild to severe such as cirrhosis, and cardiac failure. Skin changes are prominent and serve as an easily detectable marker for the expert clinician. "I think there should be a national screening policy for this disease in countries with high prevalence rates--the United States, Australia, the United Kingdom and Nordic communities," Dr. Olynyk told Reuters Health. "Most life threatening sequelae can be completely prevented by early diagnosis and treatment," he noted. In an editorial that accompanies the study, Dr. Anthony S. Tavill, of Case Western Reserve University School of Medicine in Cleveland, says, "The message is clear: most persons who are homozygous for the C282Y mutation have iron overload, and this mutation can be detected reliably by measuring transferrin saturation."