PRENATAL DIAGNOSIS OF beta-THALASSEMIA AND OTHER HEMOGLOBINOPATHIES IN SOUTHWESTERN TURKEY

Mendilcioglu I., Yakut S., KESER İ., ŞİMŞEK M., YESILIPEK A., BAGCI G., ...Daha Fazla

HEMOGLOBIN, cilt.35, sa.1, ss.47-55, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 35 Sayı: 1
  • Basım Tarihi: 2011
  • Doi Numarası: 10.3109/03630269.2010.544607
  • Dergi Adı: HEMOGLOBIN
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.47-55
  • Anahtar Kelimeler: Thalassemia, Prenatal diagnosis, Cytogenetics, CONSANGUINEOUS MARRIAGES, ANTALYA
  • Akdeniz Üniversitesi Adresli: Evet

Özet

Our aim was to evaluate the prenatal diagnosis of beta-thalassemia (beta-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 beta-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 [beta 6(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.