1. Prenatal diagnosis of β-thalassemia and other hemoglobinopathies in southwestern Turkey.
- Author
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Mendilcioglu I, Yakut S, Keser I, Simsek M, Yesilipek A, Bagci G, and Luleci G
- Subjects
- Amniocentesis, Anemia, Sickle Cell diagnosis, Anemia, Sickle Cell epidemiology, Chorionic Villi Sampling, Codon, Cordocentesis, Cytogenetic Analysis, Female, Fetus, Genetic Testing, Humans, Mutation, Pregnancy, Prenatal Diagnosis methods, Turkey, beta-Thalassemia diagnosis, beta-Thalassemia epidemiology, Anemia, Sickle Cell genetics, Hemoglobin, Sickle genetics, beta-Globins genetics, beta-Thalassemia genetics
- Abstract
Our aim was to evaluate the prenatal diagnosis of β-thalassemia (β-thal) and other hemoglobinopathies in a region with high frequency. After detection by premarital or antenatal screening, 312 patients underwent 420 prenatal diagnostic procedures for 407 fetuses in a 10-year period. Fetal samples were collected by chorionic villi sampling (CVS) in the first trimester and amniocentesis and cordocentesis in the second trimester. Mutation analyses of β-globin and cytogenetic analyses were performed and the most common mutations detected were: IVS-I-110 (G>A), IVS-II-1 (G>A), IVS-I-6 (T>C) and IVS-II-745 (C>G). Hb S [β6(A3)Glu→Val, GAG>GTG)] was the most common hemoglobin (Hb) variant with a frequency of 6.3%. Among 407 fetuses, 105 (25.8%) were diagnosed as affected, while 201 (49.4%) were carriers and 101 (24.8%) were normal. Cytogenetic analyses revealed nine fetuses (2.3%) with numerical chromosomal abnormalities as regular or mosaicism. Prenatal diagnosis of common hemoglobinopathies is safe and effective. Performing cytogenetic analysis in excess fetal material is an acceptable option.
- Published
- 2011
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