Nghiên cứu đặc điểm phân tử gene beta globin của bệnh nhân beta thalassemia tại Bệnh viện Trung ương Huế

Thalassemia is the most common monogenic disease worldwide. The severity of thalassemia depends on the degree of imbalance between the α-globin and β-globin chains. The aims of the current study were (1) to describe clinical and hematological characteristics of β-thalassemia patients; and (2) to investigate mutations of β-globin gene using Sanger sequencing, as well as the association between β-globin genotype and severity of β-thalassemia. Materials and method: 57 β-thalassemia patients treated at Hue Central Hospital were examined by sequencing the whole β-globin gene. Results: 80.7% with β-thalassemia intermedia, 19.3% with β-thalassemia major. Patients had 100% anemia, 75.4% splenomegaly, 50.9% hepatomegaly, 38.6% thalassemia facies, 28.1% jaundice and 15.8% iron overload; The red blood cell indices were decreased: Hb 7.5 ± 1.3 g/dL, MCV 70.9 ± 8.4 fL, MCH 20.5 ± 2.1 pg. Hemoglobin composition included HbA 35.2 ± 33.9%, HbA2 6.1 ± 2.7%, HbF 24.8 ± 18.0%, and HbE 38.6 ± 15.2%. Nine β-globin gene mutations were observed. The most common genotype was βE /β0 , which occupied 80.7%. The βE /βA , β0 /βA and βE /β+ genotypes were only found in β-thalassemia intermedia individuals, while the β0 /β0 genotype was limited to β-thalassemia major patients. The βE /β0 genotype was seen in both types. Conclusion: There was differences in age of blood transfusion initiation between the genotypes. Among them, the β0 /β0 genotype was the most severe.