Common alpha globin deletion mutation spectrum in hemoglobin H disease patients in the Mekong Delta, Vietnam
Keywords:
Gap-PCR, HbH disease, α-thalassemia, Mekong Delta, VietnamAbstract
Introduction: Hemoglobin H disease is a type of α-thalassemia brought on by a shortage in the generation of hemoglobin globin chains (Hb). The patients produce a form of hemoglobin called hemoglobin H by inactivation of three α-globin genes. In this paper, we report the presence of the four deletion mutations of Southeast Asia in hemoglobin H disease patients in the
Mekong Delta, Vietnam.
Methods: DNA from 50 hemoglobin H disease patients were extracted from EDTA-anticoagulated whole blood and screened for the four common α-globin deletion mutations using Gap-Polymerase Chain Reaction.
Results: The most common type of deletion was --SEA deletion, accounting for 73.5% of the mutant alleles, followed by the -α3.7 (rightward) deletion (19.1%) and -α4.2 (leftward) deletion (7.4%) mutation in this region. In this study, the --THAI mutation was not detected.
Conclusions: This study gave an overview of the prevalence of typical α-globin gene mutations in Vietnam and might act as a starting point for a further research into these genetic flaws.
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