Online edition:ISSN 2758-089X

Molecular Aspects of Transfusion Dependent Thalassemic Children in Myanmar: Analysis of Common β-Thalassemia in Myanmar by Amplification Refractory Mutation System (ARMS)

We investigated 112 DNAs from transfusion dependent thalassemic children (68 boys and 44 girls; from 9 months to 12 years of age) of Myanmar, using amplification refractory mutation system (ARMS) for five β-thalassemia (β-Thal) mutations in Myanmar. The βE-globin gene producing Hb E was detected by PCR-enzyme (Mnl I) analysis and it was positive in 66 cases. ARMS demonstrated (a) 19 cases (17%) were of homozygotes [4 cases of CD41/42 (-TCTT) deletion, 11 cases of IVS 1-1 (G → T) mutation and 4 cases of IVS 1-5 (G → C) mutation], (b) 62 cases (55.4%) were of compound heterozygotes [58 cases of Hb E/β or β-Thai (93.5%) and 4 cases of β°/β° or /β+-Thal (6.5%)] and (c) 18 cases (16.1%) of heterozygotes [8 cases of Hb E, 3 cases of CD 41/42 (-TCTT) deletion, 2 cases of IVS 1-5 (G → C), and 5 cases of IVS 1-1 (G → T)]. Thus ARMS could diagnose in 81 samples (72.3%) of the cases as either homozygous β-Thal or compound heterozygotes. Thirteen cases with negative ARMS and 18 heterozygotes need further characterization. The application of ARMS was an effective and rapid method for the identification of five β-Thal mutations [(above three and additional two mutations of CD 17 (A → T) and IVS II-654 (C → T)] which were common in Myanmar.

Harano K, et al