25 January 1998
Our lab has been contacted by a genetic counselor who has a case of perinatal hemochromatosis (intrauterine death at 21 weeks, ascites, edema, heavy iron deposits in myocardium, renal tubes, testes and pancreas), The parents are of Yemen/Iraq origin and are not consanguinous. The genetic counselor was interested if we could perform testing for hemochromatosis (i.e. the Cys282Tyr mutation, I presume) but from what I have read and from information from the GI doctors here, perinatal hemochromatosis is NOT the same disease as that caused by HFE (HLA-H). I was, therefore, wondering if anyone out there was studying perinatal hemochromatosis and could give me any additional information or who would be interested in tissue from this child for analysis. Thanks.