Prenatal diagnosis of α- and β-thalassemias in southern Thailand.

Abstract

We report our work on prenatal diagnosis of α-thalassemia, β-thalassemia and other hemoglobinopathies in southern Thailand. DNA-based diagnosis was offered to 1906 pregnancies at risk for thalassemia using a combination method of multiplex-PCR and reverse dot blot analysis to detect seven α-globin and 47 β-globin mutations. The most commonly detected mutation of α0-thalassemia was a South-East Asian deletion (98%), followed by a Thai deletion (2%). Twenty-eight β-globin mutations were identified. Fourteen common mutations, including cod 19 A-G (18.6%), cod 41/42 -TCTT (14.4%), IVS1#5 G-C (13.2%), 3.5kb deletion (9.2%), cod 17 A-T (7.7%), -28 A-G (7.3%), IVSI#1 G-T (7.1%), 12.5kb deletion (δβ)0 (5.7%), HPFH6 (4.2%), IVS2#654 C-T (2.7%), 45kb deletion (1.9%), Asian Indian-inversion-deletion Gγ(Aγδβ)0 (1.6%), cod 41 -C (1.5%) and cod 71/72 +A (1.3%) were detected, accounting for 96.5% of all mutations detected. The most common hemoglobin variant was Hb E, accounting for 97.86%. Prenatal diagnosis of 1906 couples at risk showed 22.0% normal, 51.2% carrier and 26.8% affected. The present study provides important information for diagnosis and control of severe thalassemia diseases.