Recognizing genetic hemochromatosis. 1994

F J Welch
Tulane University School of Medicine program in Community Medicine, News Orleans, LA 70112.

This article reviews the disease process hemochromatosis, which is now recognized as one of the most common genetic disorders. Hemochromatosis is transmitted as autosomal recessive, and occurs in 3% of persons of Anglo-Saxon descent. It is caused by an inappropriate increase in intestinal iron absorption resulting in deposition of excess iron in tissues. Hemochromatosis usually presents in males in their 40s, and females much later. The most frequent initial symptoms are weakness, lassitude, weight loss, and symptoms related to the onset of diabetes mellitus. The classical triad of cirrhosis, diabetes mellitus, and skin pigmentation occurs late in the disease. There is debate over the value of mass screening for the disorder; however, it is recommended that once a case has been identified family members at risk should be screened. Therapy is directed at removing excess iron by phlebotomy. By instituting early therapy, many of the long-term complications, including cirrhosis and hepatoma, can be prevented. It is imperative that physicians learn to recognize early signs and symptoms of hemochromatosis so that treated patients can expect a normal life span with minimal medical intervention.

UI MeSH Term Description Entries
D007501 Iron A metallic element with atomic symbol Fe, atomic number 26, and atomic weight 55.85. It is an essential constituent of HEMOGLOBINS; CYTOCHROMES; and IRON-BINDING PROTEINS. It plays a role in cellular redox reactions and in the transport of OXYGEN. Iron-56,Iron 56
D008286 Malabsorption Syndromes General term for a group of MALNUTRITION syndromes caused by failure of normal INTESTINAL ABSORPTION of nutrients. Malabsorption Syndrome,Syndrome, Malabsorption,Syndromes, Malabsorption
D001815 Bloodletting Puncture of a vein to draw blood for therapeutic purposes. Bloodletting therapy has been used in Talmudic and Indian medicine since the medieval time, and was still practiced widely in the 18th and 19th centuries. Its modern counterpart is PHLEBOTOMY.
D006432 Hemochromatosis A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed) Diabetes, Bronze,Bronze Diabetes,Bronzed Cirrhosis,Familial Hemochromatosis,Genetic Hemochromatosis,Haemochromatosis,Hemochromatoses,Iron Storage Disorder,Pigmentary Cirrhosis,Primary Hemochromatosis,Troisier-Hanot-Chauffard Syndrome,Von Recklenhausen-Applebaum Disease,Bronzed Cirrhoses,Cirrhoses, Bronzed,Cirrhoses, Pigmentary,Cirrhosis, Bronzed,Cirrhosis, Pigmentary,Disease, Von Recklenhausen-Applebaum,Diseases, Von Recklenhausen-Applebaum,Disorder, Iron Storage,Disorders, Iron Storage,Familial Hemochromatoses,Genetic Hemochromatoses,Haemochromatoses,Hemochromatose,Hemochromatoses, Familial,Hemochromatoses, Genetic,Hemochromatosis, Familial,Hemochromatosis, Genetic,Iron Storage Disorders,Pigmentary Cirrhoses,Recklenhausen-Applebaum Disease, Von,Recklenhausen-Applebaum Diseases, Von,Storage Disorder, Iron,Storage Disorders, Iron,Syndrome, Troisier-Hanot-Chauffard,Syndromes, Troisier-Hanot-Chauffard,Troisier Hanot Chauffard Syndrome,Troisier-Hanot-Chauffard Syndromes,Von Recklenhausen Applebaum Disease,Von Recklenhausen-Applebaum Diseases
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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