ĐẶC ĐIỂM LÂM SÀNG VÀ HUYẾT HỌC THEO GEN ĐỘT BIẾN CỦA BỆNH NHI THALASSEMIA TẠI BỆNH VIỆN TRẺ EM HẢI PHÒNG

Abstract

Objectives: To describe clinical and hematological characteristics according to gene mutations of thalassemia in children. Subjects: 83 Thalassemia pediatric patients treated at Haiphong Children's Hospital from January 1, 2015, to December 31, 2020. Methods: Case-series study. Results: Clinical manifestations of α-thalassemia are mainly in HbCs - SEA, HbCs and SEA - C2.delT mutations. Pediatric α-thalassemia mild-moderate anemia (mean Hb mutation of 1 gene: 93.8±10.4g/l; 2 genes: 92.4±13.5g/l and 3 genes: 87.2±8.5g/l). The rate of HbA1 decreased slightly (83.9-94.2%), HbA2 was normal, HbH increased (from 7.8±2.5% to 11.6±7.3%). Symptoms in children with β-thalassemia were expressed in β⁰β⁰ (100%) and β⁰β^E (76.6% - 96.2%), less so in β⁰β (9.5% - 33.3%). Pediatric β-thalassemia anemia ranged from moderate (mean Hb of β⁰β⁰ body was 68.2±12.5g/l and β⁰β^E was 79.8±14.2g/l) to mild (101.7±15.2 g) /l). Hb composition changed: The β⁰β⁰, HbA1 decreased (35.7±12.2%), HbF increased (60.8±23.7%); The β⁰β^E form has decreased HbA1 (26.1±14.1%); HbF increased (38.5±14.6%) and HbE increased (38.3±15.7%); Mutant β⁰β with reduced HbA1 (73.7±26.5%); HbA2 increased (3.8±1.5%) and HbF increased (21.2±4.3%). Conclusion: α-thalassemia rarely manifests clinically. Hematology varies according to the number of genes involved. Characterization of hemoglobin electrophoresis with increased HbH ratio. Clinical and hematological parameters of β-thalassemia patients changed more in β⁰β⁰ and β⁰β^E than in β⁰β. The hemoglobin composition changed with decreased HbA, elevated HbF and possibly HbE. There was an association between mutant genotype and phenotype in children with thalassemia.