Molecular basis of beta thalassemia in Narathiwas province

Abstract

In order to provide useful data for a prevention and control program of β-thalassemia in Narathiwas province, the molecular basis of β-thalassemia was investigated. Study was done on 6,341 subjects encountered at the Medical Laboratory section of Narathiwasrajanagarindra hospital, Narathiwas province for a period of 4 years during June 2010 – June 2014. From these, hemoglobin (Hb) E was detected in 1,499 subjects (23.6 %) and 177 cases (2.8 %) were found to carry β-thalassemia genes. The molecular basis for β-thalassemia in these cases was further examined by DNA analysis at the Faculty of Associated Medical Sciences, Khon Kaen University. Altogether, 14 different mutations were observed including IVS1#5 G-C (n = 77; 43.5%), codons 41/42 (-TTCT) (n = 30; 16.9%), codon 19 (Hb Malay) (n = 18; 10.1%), codon 17 A-T (n = 15; 8.4%), -28 A-G (n = 10; 5.6%), IVS1#1 G-T (n = 8; 4.5%), IVS2#654 C-T (n = 4; 2.2%), codon 41 (-C) (n = 3; 1.6%), 3.4 kb deletion (n = 3; 1.6%) and codons 71/72 (+A)(n = 1; 0.6%). In addition, DNA deletions causing high Hb F determinants including 12.5 kb deletion δβ⁰ -thalassemia (n = 3; 1.6%), 45 kb Filipino deletion (n = 2; 1.1%) and 79.2 kb deletion HPFH-6 (n = 2; 1.1%) and (^Aγδβ)⁰ -thalassemia (n = 1; 0.6%). All these results obtained for the first time at Narathiwas province should prove useful in a prevention and control program of thalassemia in the area.