RESUMO
Northeastern (NE) Thailand is one of the areas with a prevalence of thalassemias and hemoglobinopathies. Data on the prevalence of the diseases in minorities in the region has been limited. This study aimed to survey the thalassemias and hemoglobinopathies that take into account ethnicity. Four ethnic groups, including Laos (n = 162), Khmer (n = 145), Suay (n = 134), and Yer (n = 101) inhabiting the lower region of NE Thailand, were selected to represent the study populations. The results demonstrated that an extremely high prevalence of Hb E (HBB: c.79G>A) (>50.0%) was observed in the Khmer, Suay and Yer ethnic groups. The highest prevalence of α+-thalassemia (α+-thal) [-α3.7 (rightward)] deletion was found in the Khmer ethnic group (48.28%). The -α4.2 (leftward) deletion (α+-thal) was restricted to the Yer ethnic group. Yer and Suay had a high incidence of Hb Constant Spring (Hb CS; HBA2: c.427T>C) as well as Hb Paksé (HBA2: c.429A>T). As the prevalence of α0-thalassemia (α0-thal) is relatively high in Suay (7.46%), couples who are members of Suay ethnic population should be urged to undergo hematological screening before planning a pregnancy to control the Hb Bart's hydrops fetalis. Micromapping of thalassemias and hemoglobinopathies herein described will be helpful in genetic counseling and public education campaigns, which should be carried out in appropriate languages, with exhibitions at the village levels. This information will be of benefit for the long-term effort to reduce the burden of severe thalassemia disease in the region.