β-Thalassemia: Early prenatal diagnosis

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Güven D., Ökten G., Koçak İ., Üstün C.

Ondokuz Mayis Universitesi Tip Dergisi, cilt.29, sa.3, ss.229-230, 2012 (Scopus)

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 29 Sayı: 3
• Basım Tarihi: 2012
• Doi Numarası: 10.5835/jecm.omu.29.03.012
• Dergi Adı: Ondokuz Mayis Universitesi Tip Dergisi
• Derginin Tarandığı İndeksler: Scopus
• Sayfa Sayıları: ss.229-230
• Anahtar Kelimeler: β-Thalassemia major, Chorion biopsy, Fetal DNA analysis, Genetic defect, Prenatal diagnosis, Thalassemia
• Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
• Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

A case of beta-thalassemia major diagnosed by fetal DNA analysis on a chorion biopsy during the 11th, week of gestation is described. A 30 year-old Gravida 2, Parite 1 patient whose firstborn died of beta thalassemia major (Cd8/A) when 2 years old, was admitted to our clinic on her 10th week of pregnancy. Chorionic villus sampling was performed and resulted as beta thalassemia major (Cd8/Cd8). © 2012 OMU.