[Hemochromatotic cirrhosis complicating pyridoxine-sensitive hereditary sideroblastic anemia. Case report].
A further case of sporadic congenital sideroblastic anaemia is reported. Despite no contributing factors such as blood transfusion, oral ingestion of iron or alcoholic beverages, were present excessive iron stores occurred with consecutive tissue damage resulting in cirrhosis of the liver, portal hypertension and diabetes mellitus. HLA phenotype was A3 B7 as in primary hemochromatosis. Correction of anemia was obtained by vitamin B6 administration. Improvement of iron overload was achieved through the use of daily subcutaneous infusions of the iron chelating drug desferrioxamine with a portable infusion pump.
D000328:Adult; D000756:Anemia, Sideroblastic / Q000150:complications* / Q000151:congenital / Q000188:drug therapy; D006432:Hemochromatosis / Q000150:complications* / Q000188:drug therapy / Q000209:etiology; D006454:Hemoglobins / Q000096:biosynthesis; D006801:Humans; D008103:Liver Cirrhosis / Q000150:complications*; D008297:Male; D011736:Pyridoxine / Q000627:therapeutic use
D006454:Hemoglobins; D011736:Pyridoxine
Cirrhose hémochromatosique compliquant une anémie sidéroblastique héréditaire pyridoxino-sensible. Une observation.