Applying Multiplex ligation-dependent probe amplification technique to identify α-thalassemia carriers

Abstract

α-thalassemia disease is mostly caused by mutations in the HBA1 and HBA2 genes that lead to the deficiency in the α-globin chain, which builds up the haemoglobin molecule. Depending on the number of missing α chains, the clinical manifestations of the disease are at different levels. This disease is inherited in an autosomal recessive manner, hence identifying healthy individuals carrying mutations in the α-thalassemia gene is essential for prenatal and premarital genetic counselling to reduce the incidence in the community. Multiplex ligation-dependent probe amplification (MLPA) technique was used to determine 15 people who were suspected of carrying the α-thalassemia gene based on their complete blood count. This study identified that therewere 12/15 people carrying --SEA mutation, 1/15 carrier having -α3.7 mutation, 1/15 carrier having -α4.2 mutation and 1/15 person carrying point mutation Hb constant spring -αHbCs.