HUM-MOLGEN DIAGnostics/Clinical Research

25 January 1998
Perinatal hemochromatosis  

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.

J.A.N.
Janice A. Nicklas, PhD
Research Associate Professor of Medicine
Director, Molecular Diagnostic Laboratory
Director, VCC DNA Analysis Facility
University of Vermont
Genetics Lab
32 N. Prospect St. Burlington, VT 05401
USA
TEL# (802) 656-0016
FAX# (802) 656-8333
jnicklas@zoo.uvm.edu