Author/Editor		Weirich, Gregor; von Bubnoff, Nikolas; Langer, Rupert; Rudelius, Martina; Peschl, Christian; Hoefler, Heinz
Title		Molecular diagnosis of hereditary hemochromatosis
Type		članek
Source		In: Vizjak A, Ferluga D, Bussolati G, editors. Update in pathology. Proceedings of the 19th European congress of pathology: nephropathology pre-congress meeting advances in nephrology, pulmonary pathology pre-congress meeting; 2003 Sep 6-11; Ljubljana. Ljubljana: Faculty of medicine,
Publication year		2003
Volume		str. 223-5
Language		eng
Abstract		A 60-year-old white man with a history of invasive thymoma resected 25 years earlier, myasthenia gravis, and pure red cell aplasia (PRCA) was diagnosed severe hepatic iron overload. The differential diagnosis included hereditary hemochromatosis and secondary iron overload due to repeated transfusions of packed red cells during the course of remitting-relapsing PCRA. Additionally, the patient suffered from post-transfusion chronic hepatitis B, with clinical signs of liver cirrhosis and hepatic encephalopathy. The patient died of cardiogenic shock and septic bronchopneumonia. At autopsy massive iron overload was detected in the liver, pancreas, myocardium and endocrine organs. Genetic analysis revealed an H63D/wt mutation status of the HFE gene, which regulates iron uptake. This case illustrates that the clinically inconspicuous heterozygous H63D mutation of the HFE gene may trigger the development of severe hemochromatosis in chronically transfused patients.
Descriptors		HEMOCHROMATOSIS MIDDLE AGE AUTOPSY IRON OVERLOAD