ỨNG DỤNG KỸ THUẬT GAP-PCR PHÁT HIỆN ĐỘT BIẾN MẤT ĐOẠN GEN ALPHA-GLOBIN GÂY BỆNH HEMOGLOBIN H

Abstract

Background: Hemoglobin H (HbH) disease is a type of α-thalassemia brought on by a shortage in the generation of hemoglobin globin chain. The patients produce a form of hemoglobin called hemoglobin H by inactivation of three α-globin genes. In this paper, we reported the presence of the four deletion mutations causing HbH disease. Objectives: To determine allele frequency of αglobin gene deletion mutations and genotypes of HbH disease by using Gap-polymerase chain reaction (Gap-PCR). Materials and methods: This cross-sectional descriptive study was conducted in 48 HbH disease patients. DNA was extracted from EDTA-anticoagulated whole blood and screened for common α-globin deletion mutations using Gap-PCR. Results: The most common type of deletion was --^SEA deletion, accounting for 75.0% of the mutant alleles, followed by the -α^3.7 deletion with 17.2% of the mutant alleles and -α^4.2 deletion with 7.8% of the mutant alleles. In this study, the --^THAI mutation was not detected. Conclusions: Gap-PCR is a good initial screening test for detecting common α-globin deletion mutations causing HbH disease.