International Journal of Hematology

DOI: 10.1007/s12185-018-2494-3 Pages: 384-389

Molecular characterization of Hb H disease in southern Thailand

1. Prince of Songkla University, Department of Biomedical Sciences, Faculty of Medicine

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

Correspondence to:
Chamnong Nopparatana
Email: chamnong.n@psu.ac.th

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Abstract

Genotypes of 260 individuals with hemoglobin H (Hb H) disease originating from various provinces in southern Thailand were characterized by multiplex PCR (M-PCR) and reverse dot blot hybridization (RDB). M-PCR was used to amplify target fragments and then hybridized with allele-specific oligonucleotide (ASO) probes which were bound on a nylon membrane. A total of eight α-thalassemia (α-thal) mutations, which produced eight Hb H disease genotypes (α0-thal/α+-thal), were detected. The most common form of α0-thal was −SEA with a frequency of 99.23%. The other form (0.77%) of α0-thal mutation was a THAI deletion (−THAI). The deletional α+-thal mutations comprised 3.7 kb (-α3.7) and 4.2 kb (-α4.2) deletions which were found in 172 (66.15%) and 5 (1.92%) alleles, respectively. The incidence of non-deletional α+-thal in decreasing order was Hb Constant Spring (Hb CS, αCS) 28.85%, Hb Quong Sze (Hb QS, αQS) 1.54%, and Hb Paksé (Hb PS, αPS) 0.77%. The genotype characterization of Hb H disease and the development of the RDB technic for detection of α-thal mutations presented in this study enable the prenatal diagnosis of Hb Bart’s hydrops fetalis syndrome.

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