ỨNG DỤNG LỸ THUẬT Gap-PCR VÀ C-ARMS-PCR TRONG XÁC ĐỊNH ĐỘT BIẾN GEN ALPHA GLOBIN Ở BỆNH NHÂN BỆNH HEMOGLOBIN H

Abstract

Background: Hemoglobin H (HbH) disease is α-thalassemia intermedia - an autosomal recessive inherited disease and typified by the reduced or absent production of the α-globin chains in hemoglobin molecule (Hb). HbH disease is caused by a combination of mutations on three α-globin genes, determining the presence of these mutations helps to accurately diagnose HbH disease and genetic counseling for the patient's family. Objectives: Determining the rate of α-globin gene mutations and genotypes of HbH disease by using Gap-polymerase chain reaction (Gap-PCR) and Combine-amplification refractory mutation system-polymerase chain reaction (C-ARMS-PCR). Materials and methods: This cross-sectional descriptive study was conducted, 41 HbH disease patients who went to Can Tho city Hematology Blood Transfusion Hospital for examination and treatment were surveyed for 06 common α-globin mutations by  Gap-PCR and C-ARMS-PCR. Results: This Study identified 5 types of mutations including --^SEA, -α^3.7, α^CS, -α^4.2, α^QS with the corresponding rate of 54.7%; 18.7%, 17.3%, 8.0% and 1.3%, --α^THAI mutation has not been recorded. (--^SEA/-α^3.7) genotype was the most common with 34.2%, followed by (--^SEA/α^CSα) accounting for 31.7%, (--^SEA/-α^4.2) with 14.6%, (--^SEA/α^QSα) with 2.4%, and the remaining 17.2% only identified one deletion of α-globin gen mutation with genotype (--^SEA/αα). Conclusions: Gap-PCR and C-ARMS-PCR are effective for determining common α-globin gene mutations in HbH disease patients.