Penderita Dengan Hemokromatosis Primer

Primary Hemochromatosis is a hereditary disease that occurs predominantly in man. Among men, clinical signs and symptoms frequently appears on 40 years until more than 60 years of age. Meanwhile, the signs and symptoms among women appear on 50 years of age or after menopause. It is a very rare case in children or young adult. Secondary hemochromatosis can be differentiated from primary hemochromatosis based on existence of other underlying disease and secondary hemochromatosis often occurs in patient with multiple blood transfusions. The diagnosis of primary hemochromatosis is confirmed by chromosomal test and liver biopsy to confirm the liver damage caused by excessive iron accumulation. The main treatment of primary hemochromatosis is phlebotomy. The purpose of this method is to remove overload iron in body. In this case, the patient was man, unmarried, 51 years old, Australian. Four years ago, he had complained about arthropathies, chronic asthenia, depression, decreased of concentration and sexual desire. Laboratory evaluation revealed Ferritin level 2126 ug/L and transferrin saturation always more than 99%. Liver function tests also increased significantly. Some of his family’s members have the same disease as he has. He was diagnosed as primary hemochromatosis and had performed phlebotomy routinely. After phlebotomy has done, he recovered based on clinical and laboratorial findings. Key words: Primary hemochromatosis, chromosomal test, ferritin, transferrin saturation, phlebotomy