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Research Interests:

Description of research activities:

I am a gastroenterologist and have been involved with genetic hemochromatosis for the past 20 years. This is the most common genetic disease in Canada (1 in 327) and leads to iron overload in the liver, heart, pancreas and other organs. The gene for hemochromatosis was discovered in 1996, and this has led to a large number of studies on genotypic/phenotypic correlations in hemochromatosis. In conjunction with Dr. Subrata Chakrabarti, we have studied several mutations of the hemochromatosis gene (C282Y, H63D, S65C) and their clinical expression in biopsy specimens. Experimental studies have investigated the expression of other iron transport genes and proteins like DMT1 (divalent metal transporter 1) and SFT (stimulator or iron transport) in human tissues. A large number of human DNA samples is available as a result of our population screening studies for hemochromatosis.

Selected Publications:

1. Adams, P.C., Chakrabarti, S. Genotypic/phenotypic correlation in genetic hemochromatosis: evolution of diagnostic criteria. Gastroenterology 114:319-323, 1998.
2. Jeffery, G., Basclain, K., Hajek, J., Chakrabarti, S., Adams, P.C. Alternate splicing produces a soluble form of the hereditary hemochromatosis protein HFE. Blood Cells, Molecules and Diseases. 28:61-67, 1999.
3. Jeffrey, G., Chakrabarti, S., Hegele, R.A., Adams, P.C. Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis. Nature Genetics, 22:325-326, 1999.
4. Alanen, K., Chakrabarti, S., Jeffrey, G., Rawlins, J., Howson, W., Adams, P.C. Prevalence of C282Y mutation of the hemochromatosis gene (HFE) in end stage liver disease: a study of liver transplant recipients and donors. Hepatology, 30(3):665-669, 1999.