Esra Isik, Yesim Aydinok, Canan Albayrak, Basak Durmus, Zeynep Karakas, Mehmet Fatih Orhan, Nazan Sarper, Sultan Aydın, Selma Unal, Yesim Oymak, Nihal Karadas, Aysen Turedi, Davut Albayrak, Funda Tayfun, Deniz Tugcu, Serap Karaman, Mahmut Tobu, Ekrem Unal, Alper Ozcan, Sule Unal, Tekin Aksu, Aysegul Unuvar, Mustafa Bilici, Fatih Azik, Yilmaz Ay, Sema Aylan Gelen, Emine Zengin, Esin Albudak, Ibrahim Eker, Taner Karakaya, Ozgur Cogulu, Ferda Ozkinay, Tahir Atik
OBJECTIVES: In congenital hemolytic anemias (CHA), it is not always possible to determine the specific diagnosis by evaluating clinical findings and conventional laboratory tests. The aim of this study is to evaluate the utility of next-generation sequencing (NGS) and clinical-exome-based copy number variant (CNV) analysis in patients with CHA. METHODS: One hundred and forty-three CHA cases from 115 unrelated families referred for molecular analysis were enrolled in the study...
March 31, 2024: European Journal of Haematology