PREVALENCE OF THE HEREDITARY HEMOCHROMATOSIS MUTATIONS (C282Y, H63D AND S65C) IN THE REPUBLIC OF MACEDONIA
Arsov T*, Petlichkovski A, Strezova A, Jurhar-Pavlova M, Trajkov D, Spiroski M
*Corresponding Author: : Dr. Todor Arsov, Institute of Immunobiology and Human Genetics, Institutes of the Faculty of Medicine, University in Skopje, Ul. “50 Divizija” No. 6, P.O. Box 60, 1109 Skopje, Republic of Macedonia; Tel: +389 2 110 556; Fax: +389 2 110 558; e-mail: todorarsov@hotmail.com
page: 11

Abstract

Hereditary hemochromatosis is considered to be one of the most frequent genetic diseases in Europeans. Mutations in the hemochromatosis (HFE) gene, which underlie this disease, have been characterized in the last decade. The most frequent HFE mutations are C282Y, H63D and S65C. The C282Y mutation is most frequent in the general population of northwest Europe; 1 in 8-10 persons being carriers and 1 in 200-400 being homozygotes. The prevalence of this mutation is much lower in southern Europe. The H63D mutation has an equally high prevalence in northwest and southern Europe. In this article we present data concerning the prevalence of the most frequent HFE mutations in Macedonians, Albanians and Gypsies in the Republic of Macedonia.



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