Genetic variants of beta-globin gene in Thai malaria patients

Hemoglobin E (E26K variant of beta-globin gene) causing hemoglobinopathy is commonly observed in parts of Thailand, regardless of the hematologic disadvantage of the homozygotes. In order to detect further variants of the beta-globin gene, we performed variation screening for exon 1 of the beta-globin gene in 64 adult patients with P. falciparum malaria, living in northwest Thailand. We identified E26K and two novel variants, 59C>T and IVS+1G>T. IVS+1G>T lies on the splice donor site, and a substitution of A for G at the same site (IVS+1G>A) is known to be linked to beta-thalassemia. Thus, the biological significance of IVS+1G>T and its association with malarial infection should be clarified in future studies.