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Title: Analysis of Deletional Hb H Diseases in Samples with Hb A<inf>2</inf>-Hb H and Hb A<inf>2</inf>-Hb Bart’s on Capillary Electrophoresis
Authors: Kunyakan Khongthai
Chedtapak Ruengdit
Sitthichai Panyasai
Sakorn Pornprasert
Keywords: Biochemistry, Genetics and Molecular Biology
Issue Date: 3-Sep-2019
Abstract: © 2019, © 2019 Informa UK Limited, trading as Taylor & Francis Group. The capillary electrophoresis (CE) system allows the quantification of Hb Bart’s (γ4) and Hb H (β4) that is used for screening of Hb H disease. However, Hb Bart’s hydrops fetalis and Hb H are not always codetected in patients with Hb H disease. In this study, 35 samples were analyzed for the α0-thalassemia (α0-thal) [– –SEA (Southeast Asian) and––THAI (Thailand)] deletions and the α+-thal [–α3.7 (rightward) and –α4.2 (leftward)] type deletions using real time-polymerase chain reaction (real time-PCR) with SYBR Green1 and high-resolution melting (HRM) analysis and conventional gap-PCR techniques, respectively. Results showed that 28 of 29 (96.6%) samples with the Hb A2-Hb H phenotype on CE electrophoregrams presented the genotype of––SEA/–α3.7, while the––SEA/–α4.2 made up the remainder. The––SEA/–α3.7 genotype was also found in all six samples (100.0%) with Hb A2-Hb Bart’s on CE electrophoregrams. Thus, for genetic counseling, prevention and control programs of Hb Bart’s hydrops fetalis and Hb H disease, α-thal genotype analysis is required.
ISSN: 1532432X
Appears in Collections:CMUL: Journal Articles

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