Premarital hemoglobinopathy screening in Kocaeli, Turkey: a crowded industrial center on the north coast of Marmara Sea.

OBJECTIVE: Premarital hemoglobinopathy screening is one of the important procedures of hemoglobinopathy control program. This is the first report about the prevalence of hemoglobinopathies in Kocaeli. METHODS: Study covered screening from July 2005 to the end of the December 2008. Under the auspices of the Ministry of Health and Regional Health authorities blood samples of the couples were obtained during admission to the wedding office. Complete blood counts and hemoglobin variant analysis were performed with automatic counter and high pressure liquid chromotography technique. A genetic counseling was given to carriers of abnormal hemoglobins. RESULTS: A total of 88888 people were screened. The frequency of ß -thalassemia trait and sickle cell anemia trait were 0.89% and 0.05% respectively. The frequency of high risk couples was 0.01%. CONCLUSION: The prevalence of ß -thalassemia trait and sickle cell anemia trait was quite low as a reflection of the frequency of eastern and northern Anatolia and migration to Kocaeli from these geographic regions. Although frequency is low, chronic transfusion requirement, high cost of chelating, organ damage, painful crisis and other crisis, availability of stem cell transplantation for a limited number of patients with compatible sibling donors justify premarital screening studies even in less prevalent regions as Kocaeli.

Beta globin gene cluster haplotypes of abnormal hemoglobins observed in Turkey.

Since the first observation of hemoglobin S (Hb S) in Turkey by Aksoy, the number of hemoglobin variants reported was increased. Beta globin gene cluster haplotypes are being used to determine the origin of the mutations under interest. We studied the beta globin gene cluster haplotypes for the six different abnormal hemoglobins which are Hb S, Hb D-Los Angeles, Hb G-Coushatta, Hb E, Hb E-Saskatoon and Hb J-Iran observed in Turkey. In this study, we report two novel haplotypes [- + + - - - +] and [- + - + + +] in association with the Hb G-Coushatta mutation. The haplotype for the Hb J-Iran is also reported as [- + - + + + +] for the first time in world populations from Turkey.