Authors: İBRAHİM KESER, ESRA MANGUOĞLU, ÖZLEM GÜZELOĞLU KAYIŞLI, FATMA KURT, İNANÇ MENDİLCİOĞLU, MEHMET ŞİMŞEK, GÜLSEREN BAĞCI, GÜVEN LÜLECİ
Abstract: Beta-thalassemia and Sickle cell anemia are serious health problems in the Antalya Province of Turkey as well as World Wide. We aimed to summarize data obtained from the prenatal diagnosis for beta-thalassemia and sickle cell anemia of 103 fetuses. All samples were cytogenetically and molecular genetically examined during a period of 4 years. Molecular testing using RDBH and direct DNA sequencing was performed by using amplified DNA from chorionic villi samples at 9-14 weeks of gestation, while mutations in the parents were determined in advance. Cytogenetic analysis was carried out from a primary culture set up. Of the 103 fetuses, 26 were affected; 25 had beta-thalassemia major, and one had HbS/ beta-thalassemia. All of the affected fetuses were theraupatically aborted with the written permission of their parents. VNTR analysis was used to eliminate maternal contamination. IVSI-110 (G-A) was reported as the most frequent allele(50.4%) in all fetuses. Heterozygosity for IVSI-110 was the most prevalent combination. Of the 26 affected fetuses, one was found to have a 46,XY/47,XY,+22 mosaic karyotype. On the other hand, one fetus with normal genotype for beta-globin gene was cytogenetically found to have a 45,X karyotype. As a result, we suggest that for accurate genetic counselling the CV and other samples obtained for molecular prenatal testing of the beta-thalassemia should also be studied to identify possible chromosomal abnormalities.
Keywords: beta-globin gene, beta-thalassemia, sickle cell anemia, prenatal diagnosis, Antalya
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