Molecular Survey of Hemoglobinopathies in Myanmar Workers in Northeast Thailand Revealed an Unexpectedly High Prevalence of α-Thalassemia.

To provide the molecular information on hemoglobinopathies in the Myanmar population, the study was carried out on Myanmar workers in Khon Kaen Province in northeast Thailand. A total of 300 anonymous Myanmar factory workers were randomly recruited during their annual medical checkup. Hemoglobinopathies were identified using hemoglobin (Hb) and DNA analyses. These identified heterozygous α-thalassemia (α-thal) [- - (Southeast Asian) deletion] ( = 5, 1.7%), heterozygous α-thal ( = 103, 34.3%), homozygous α-thal ( = 12, 4.0%), heterozygous β-thalassemia (β-thal) ( = 3, 1.0%), heterozygous β-thal with homozygous α-thal ( = 2, 0.7%), double heterozygous β-thal/α-thal ( = 1, 0.3%)], heterozygous Hb E (: c.79G>A) with α-thal/α-thal ( = 1, 0.3%), heterozygous Hb E ( = 27, 9.0%), heterozygous Hb E with α-thal ( = 24, 8.0%), homozygous Hb E with α-thal/α-thal ( = 1, 0.3%), homozygous Hb E ( = 3, 1.0%) and homozygous Hb E with heterozygous α-thal ( = 3, 1.0%). No thalassemia defect was found in the remaining 115 subjects (38.4%). Haplotypes associated with Hb E and Hb Dhonburi (or Hb Neapolis) [β126(H4)Val→Gly, codon 126 (T>G), : c.380T>G] are reported. While the proportions of α-thal, β-thal and Hb E are comparable to those described in neighboring countries, a markedly high prevalence of α-thal (48.6% in total) is unexpected. The molecular information obtained should provide necessary information for diagnostic improvement and planning of a prevention and control program of severe thalassemia in the Myanmar population.