XÁC ĐỊNH ĐỘT BIẾN GEN GÂY BỆNH THALASSEMIA Ở TRẺ EM TẠI BỆNH VIỆN TRẺ EM HẢI PHÒNG

Abstract

Objectives: To identify gene mutations causing Thalassemia in children. Subjects: 85 patients diagnosed with Thalassemia treated at Haiphong Children's Hospital from January 1, 2015, to December 31, 2020. Methods: Case-series study. Results: The clinical forms: β-thalassemia 56(65.9%), α-thalassemia 27(31.8%) and 2 patients carrying both α and β-thalassemia mutations (2.3%). In patients with α-thalassemia, 4 mutant forms of SEA, 3.7, HbCs, C2deIT were detected with 23(56.1%), 4(9.8%), 11(26.8%), 3(7.3%) cases, respectively. There were 23 patients (85.2%) with damage on 1 gene. There were 6 mutant forms of β-thalassemia detected: CD26 mutations 33(39.8%), CD41/42 mutations 21(25.3%), CD71/72 mutations 15(18.1%), CD17 mutations 13(15.7%), CD95 mutations 3(3.6%), and IVS I-1 mutation 1(1.2%). There were 97.6% mutations at the RNA translation stage. There were 15 genotypes carrying mutations, expressed in 3 phenotypes β⁰β⁰ in 9 patients (15.5%), β⁰β in 21 patients (39.7%), and β⁰β^E in 26 patients (44.8%). Conclusions: β-thalassemia patients experience more than α-thalassemia. There were 4 types of mutations in α-thalassemia patients, including SEA, 3.7, HbCs, and C2deIT. There were 6 types of β-thalassemia mutants, including CD26, CD41/42, CD17, CD71/72, CD95, and IVS I-1, which were expressed in 3 phenotypes β⁰β⁰, β⁰β^E_, and β⁰β.