Akademik Veri Yönetim Sistemi
Balkan Medical Journal, cilt.40, sa.5, ss.382-383, 2023 (SCI-Expanded)
Dear Editor, We appreciate the letter’s author’s considerate, illuminating ideas and recommendations for our article. We appreciate the chance to address the concerns highlighted and clarify our research. 1 As the authors stated, hemoglobinopathies are one of the leading health problems in Turkey.2 Within the scope of the national hemoglobinopathy prevention program, in provinces with a high prevalence since the 2000s; It is applied in the form of prenatal screening programs and prenatal diagnosis.3,4 Firstly, we should note that since the mid-1990s, prenatal diagnosis of hemoglobinopathies has been performed at the molecular level by Chorionic villus sampling (CVS), and in some cases cordocentesis, in collaboration with the Medical Faculty, Department of Obstetrics and Gynecology (Our laboratory does not diagnose thalassemia with amniocentesis sampling. Another department in our hospital uses amniocentesis to diagnose trisomies). Families that applied for prenatal diagnosis of hemoglobinopathies at our gynecology department are consulted to our medical biochemistry molecular laboratory unit for molecular analysis. high performance liquid chromatography (HPLC) is used to determine hemoglobin (Hb) fractions in samples to seperate hemoglobins, and molecular diagnostic methods are used for determining the mutation profiles of the parents. We use Amplification Refractory Mutation System, RE-Analysis and multiplex polymerase chain reaction (PCR) to detect the most frequently observed mutations. At a scientific level, we try to resolve cases with suspected thalassemia but whose mutations cannot be detected by classical molecular methods by performing gene expression analysis in addition to qPCR and Sanger sequencing. The genotype of the CVS sample collected by the perinatologist is analyzed and the results are shared with the relevant departments in addition to providing genetic counseling and information to the families.