Hemochromatosis and Hemojuvelin G320V Homozygosity in a Hungarian Woman.

The article describes a case of homozygosity of the G320V mutation of the hepcidin or HJV genes in a 31-year-old Hungarian female patient. Information on juvenile hemachromatosis (JH) is offered. Histological examination showed that Kupffer cells and those of the liver and biliary tract were heavily laden with iron. Findings from laboratory tests and hormonal tests are elaborated. The application of regular venesections and chelation therapy is cited.