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 ligationdependent 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 there were 12/15 people carrying --^SEA mutation, 1/15 carrier having -α^3.7 mutation, 1/15 carrier having -α^4.2 mutation and 1/15 person carrying point mutation Hb constant spring -α^HbCs.