Molecular characterization of Hb H disease in southern Thailand

International Journal of Hematology
Kesara Nittayaboon, Chamnong Nopparatana

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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Citations

Oct 30, 2019·International Journal of Hematology·Chamnong NopparatanaKorntip Srewaradachpisal
Jul 30, 2020·Scandinavian Journal of Clinical and Laboratory Investigation·Wittaya JomouiSitthichai Panyasai
Jun 27, 2019·International Journal of Hematology·Kanittha MankhemthongTorpong Sanguansermsri

Related Concepts

Hemoglobin Bart's
Abnormal Hemoglobins
Antenatal Screening Procedures
Immune Hydrops Fetalis
Alpha-Thalassemia
Deletion Mutation
Alleles
Gene Deletion
Hemoglobin
Molecular Probes

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