A large cohort of β(+)-thalassemia in Thailand: molecular, hematological and diagnostic considerations

We report the molecular and hematological characteristics associated with a large cohort of β(+)-thalassemia in Thailand. Study was done on 21,068 unrelated subjects referred to our center in northeast Thailand for hemoglobinopathies investigation. Among 21,068 subjects, 2637 (12.5%) were found to carry β-thalassemia. Of these 2637 cases, 705 (26.7%) carried β(+)-thalassemia with eight different mutations including 6 promoter mutations; NT-28 (A-G), NT-31 (A-G), NT-50 (G-A), NT-86 (C-G), NT-87 (C-A) and NT-90 (C-T) and two missense mutations; Hb Malay (codon 19; AAC-AGC) and Hb Dhonburi (codon 126; GTG-GGG). Hematological features of carriers with these β(+)-thalassemia (n=528) were compared with those with β(0)-thalassemia (n=309). Data for Hb E-β(+)-thalassemia (n=177) were also presented along with Hb E-β(0)-thalassemia in our series (n=94). All patients with Hb E-β(+)-thalassemia were associated with mild thalassemia intermedia phenotypes. Most of the β(+)-thalassemia carriers had elevated Hb A2 and mild hypochromic microcytosis, some demonstrated borderline MCV and MCH values which, could compromise carrier screening. Analysis of α/β-globin mRNA ratio in representative cases with normal, Hb E trait, β(+)-thalassemia trait, Hb Dhonburi trait and β(0)-thalassemia trait demonstrated the average values of 1.1, 1.7, 2.1, 1.7 and 3.1, respectively which is helpful in identification and differentiation of the cases.