Molecular characterization of Hb H disease in southern Thailand
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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.
KeywordsMolecular Hb H disease Southern Thailand
The authors thank the staff of the Hematology and Thalassemia Laboratory of the Department of Pathology, Faculty of Medicine, Prince of Songkla University for the technical support. This work was supported by a Grant (REC 57-005-04-6-2) from the Faculty of Medicine, Prince of Songkla University. The sponsors of this study are public or nonprofit organizations that support science in general.
KN performed the research, analyzed the data, and wrote the manuscript. CN designed the research study, interpreted the data, and edited the manuscript. Final version of the article was read and approved by all of the authors.
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Conflict of interest
The authors declare that they have no conflict of interests regarding the publication of this paper.
- 1.Origa R, Moi P. (2016) Alpha-Thalassemia. GeneReviews® [Internet]. https://www.ncbi.nlm.nih.gov/books/NBK1435/ (cited 2017 Oct 20).