Detection of α-thalassemia mutations by Multiplex ligation-dependent probe amplification

Abstract

Vietnam is a country with a high rate of people carrying α-globin gene mutations, therefore, it is highly important to screen for α-thalassemia carriers, especially in couples with one diagnosed α-carrier, in order to prevent and avoid having α-thalassemia major offspring. α-thalassemia is an inherited autosomal recessive disease, of which the phenotype depends on the degree of α-globin chain deficiency. Research samples were collected and analysed gene mutations at the Gene - Protein Research Center, Hanoi Medical University. With the objective of screening for deletional and nondeletional α-globin gene by using Multiplex ligation-dependent probe amplification (MLPA) method on eighty five people, whose spouses were α-thalassemia carriers, the results of this study have successfully identified 38/85 carriers including thirty five deletional carriers (26 --SEA, 5 -α3.7, 1 -α4.2, 1 --THAI, 1 whole α-globin deletion, and 1 POLR3K-ITFG3 gene deletion) and 3 cases of non-deletional mutation (2 -αHbCs, 1 anti3.7). Deletional mutations account for 92.1% while non-deletional mutations account for only 7.9%.