FREQUENCY OF THREE HEMOCHROMATOSIS GENE MUTATIONS IN ANTALYA, TURKEY
Oztürk S, Lüleci G, Keser I*
*Corresponding Author: Associate Professor Dr. Ibrahim Keser, Department of Medical Genetics, School of Medicine, Akdeniz University, 07070 Antalya, Turkey; Tel.: +90-242-249-6000, Ext: 6973; Fax: +90-242-227-4484; Mobile Tel.:+90-532-788-7644; E-mail: keser@akdeniz.edu.tr
page: 25

DISCUSSION

Hereditary hemochromatosis is the most prevalent monogenic disease in Caucasian European populations. It has been reported that the frequency of the C282Y mutation is high in people of Anglo-Celtic origin [2,5,12,17]. Heterozygotes are very common in Ireland (28.4%) [5], Denmark (13.7%) [12], Norway (12.8%) [5] and Iceland (10.0%), and less common in southern Europe: Greece (2.6%), Italy (2.2%) and Spain (4.5%) [5]. This mutation is less frequent in people from southern Europe and present at very low frequencies or absent in the Asiatic and African populations [5,20,21]. We did not find the C282Y and S65C mutations in Antalya, Turkey. This result is similar to those published for the Brazilian [14], Chinese [5] and Japanese [16] populations, excluding 4.0% for the frequency of the S65C mutation in the Ecuadorian population [15]. In addition, Bozkaya et al. [22], Merryweather-Clarke et al. [23], Simsek et al. [24] and Barut et al. [25], did not observe the C282Y mutation, and also did not test for the S65C mutation in their Turkish population. Prevalence of the H63D mutation was high in the present study, such as in the Macedonian population [6]. Therefore, we believe that our data are important due to being a bridge between Asia and Europe. Full phenotypic expression of hereditary hemochromatosis is very rare in the population of Antalya. However, the H63D mutation may be responsible for the hereditary hemochromatosis in the Turkish population




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