International Journal of Hematology

DOI: 10.1007/s12185-019-02761-4 Pages: 284-292

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

1. Prince of Songkla University, Department of Pathology, Faculty of Medicine

2. Prince of Songkla University, Faculty of Veterinary Science

Correspondence to:
Chamnong Nopparatana



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%), 3.5 kb deletion (9.2%), cod 17 A-T (7.7%), -28 A-G (7.3%), IVSI#1 G-T (7.1%), 12.5 kb deletion (δβ)0 (5.7%), HPFH6 (4.2%), IVS2#654 C-T (2.7%), 45 kb 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.

To access the full text, please Sign in

If you have institutional access, please click here

Share the Knowledge