Prevalence of thromogenic gene mutations in women with recurrent miscarriage: A retrospective study of 1,507 patients.

OBJECTIVE: Thromogenic gene mutations has been thought to be associated with recurrent pregnancy loss in women in Turkey. The aim of this study was to investigate the prevalence of thromogenic gene mutations such as factor V Leiden (FVL, G1691T), prothrombin (G20210A), and the methylene tetrahydrofolate reductase (MTHFR, C677T) mutation in women with recurrent pregnancy loss. METHODS: This descriptive study was carried out in the Department of Obstetrics and Gynaecology, Harran University School of Medicine, and included a total of 1,507 women with histories of recurrent pregnancy loss between January 2010 and June 2013. The mutations were assessed by using the polymerase chain reaction. RESULTS: The homozygous mutation frequencies of FVL, prothrombin, and MTHFR were found to be 3 (0.20%), 0 and 125 (8.29%), and the heterozygous mutation frequencies were 83 (5.51%), 61 (4.05%), and 612 (40.61%), respectively. Among the 86 FVL mutation patients, 38 also had accompanying prothrombin and MTHFR mutations. CONCLUSION: Since the homozygous forms of the FVL-prothrombin gene mutations have low incidences and MTHFR mutation is similar to a healthy population, preconceptional thromogenic gene mutations screening seems to be controversial.

Prevalence of ß-thalassemia trait and abnormal hemoglobins in Sanliurfa Province in southeast Turkey.

Thalassemia is one of the most common hereditary disorders in Turkey, especially in the Mediterranean region of the country. The purpose of this study was to determine the frequency of the ß-thalassemia (ß-thal) trait and abnormal hemoglobins (Hbs) in couples who applied for premarital screening in Sanliurfa Province, in the southeastern region of Turkey, a province with the first reported incidence of ß-thal and abnormal Hbs. In the present study, in order to detect the prevalence of the ß-thal trait and abnormal Hbs in Sanliurfa Province, Turkey, a total of 37,962 couples who applied for premarital screening were analyzed. From January 2011 through March 2014, red blood cell (RBC) counts and Hb fractionation were carried out by a cell counter and high performance liquid chromatography (HPLC), respectively. The prevalence of ß-thal with high Hb A2 (>3.5%) values was found at rates of 2.44% (n = 1853) in Sanliurfa Province. Additionally, the abnormal Hb rate was 1.57% (1193/75,924), and Hb S (HBB: c.20T > A), Hb C (HBB: c.19G > A) and Hb D-Punjab (HBB: c.364G > C) were reported as 0.50, 0.38 and 0.69, respectively. This study is the first to establish the frequency of ß-thal and abnormal Hbs in Sanliurfa Province, which has the highest birth frequency. We report that the frequency of the ß-thal trait is at a high-risk level compared to other cities in Turkey. Due to the high risk of ß-thal in Sanliurfa Province, a premarital screening program would be of great value in informing parents about offspring with ß-thal.