ACARRIER SCREENING AND PRENATAL DIAGNOSIS OF FAMILIES WITH βTHALASSEMI

The contribution of inherited disorders among human beings to congenital abnormalities and childhood mortality is also a significant factor globally. These conditions are mostly untreatable but can only be prevented and treated on an asymptomatic basis. It is more deplorable in inbred populations such as the one experienced in Pakistan, with higher rates (70%) of consanguinity marriages. Consanguinity enhances the chance of an individual having a variant that is inherited in a homozygous fashion, thereby leading to a recessive illness. However, prenatal diagnosis is an effective approach to regulate the frequency of carriers of genetic disorders with an autosomal recessive mechanism of inheritance. This study examined eight families that had a history of β-thalassemia being screened against the most frequent mutations that cause the condition. Genotyping was done by Amplification Refractory Mutation System (ARMS), an adaptation of PCR, with allele-specific primers used to detect mutation successfully in all of these families. The results showed that the most common mutation of the investigated families was IVS-I-5 and FSC 8-9. The results, thus, elucidate the value of national carrier screening programs, premarital screening, and genetic counselling, showing great potential to significantly reduce the incidence of at-risk births by β-thalassemia major. This study provides valuable genomic information and thus forms a strong foundation for the development of policy measures and a contribution to a future where β-thalassemia can successfully be prevented through early diagnosis, community awareness, and informed reproductive decision-making.