Thalassemia screening in relative couple: Importance of Prenatal Diagnosis Tests and Genetic Counseling

Backgrounds: Thalassemia screening in couples plays a role in preventing the thalassemiamajor in infants. Also, the investigation of thalassemia mutations and genotypes in counselingGenetics is necessary. This study aimed to evaluate the effectiveness of genetic counseling andprenatal diagnostic tests in thalassemia-carrier couples.Materials and Methods: This cross-sectional study was performed on ۲۴۱ couples who weresuspected of thalassemia from April ۲۰۱۸ to March ۲۰۲۰ in Lorestan province. Statisticalanalysis of data was performed using SPSS software ۱۶.۰ (SPSS Inc, Chicago, IL. Also,multiplex cap PCR, ARMS-PCR, Sequencing, and MLPA-PCR have been used for theidentification of thalassemia mutations.Results: IVSII-۱ (G> A), CD۳۶-۳۷ (-T), IVSI-۱۱۰ (G> A), --Med, and α۳.۷ were the mostcommon mutations in the beta and alpha genes, respectively. IVSII-۱ (G> A) β۰/β (۲۶.۱%),CD۳۶-۳۷ (-T) β۰/β (۲۱.۱%), and IVSI-۱۱۰ (G> A) β۰/β (۱۰.۳%) genotypes were the mostcommon in subject of study. Among alpha thalassemia carriers, the α۳.۷α / α α genotype had thehighest frequency among women (۳.۷%) and men (۵.۳%). Alpha and beta-thalassemia were ۱۸and ۹ times higher in related men than non-related ones, respectively. This difference wasstatistically significant (P <۰.۰۰۱). In addition, ۱۲.۸% of fetuses were thalassemia major, ۳۱.۹%beta-thalassemia minor and, ۱۰.۳% normal.Conclusion: Thalassemia screening in related couples plays an important role in reducingthalassemia major infants.

کلیدواژه ها:

Mutation ، Thalassemia ، Genotype ، Diagnosis