ĐẶC ĐIỂM KIỂU GEN GLOBIN Ở BỆNH NHI DÂN TỘC KHMER CÓ THIẾU MÁU HỒNG CẦU NHỎ NHƯỢC SẮC TẠI BỆNH VIỆN SẢN NHI SÓC TRĂNG NĂM 2024-2025

Abstract

Background: Thalassemia is a disease caused by mutations in the globin gene, leading to a partial or complete deficiency of the polypeptide chain in hemoglobin. In Viet Nam, carriers of the disease gene are present in all 63 provinces and 54 ethnic groups, with some ethnicities having a thalassemia gene carrier rate exceeding 30-40%. Objectives: To investigate the clinical and subclinical characteristics and globin gene mutations in Khmer ethnic pediatric patients with hypochromic microcytic anemia not attributed to iron deficiency at Soc Trang Hospital for Women and Children. Materials and methods: A descriptive case series study was conducted on 33 pediatric patients diagnosed with hypochromic microcytic anemia not attributed to iron deficiency at Soc Trang Hospital for Women and Children in 2024-2025. Results: The median hemoglobin (Hb) concentration was 10.00g/dL, corresponding to mild-to-moderate anemia. MCV and MCH were markedly decreased (median MCV: 73.20fL; median MCH: 22.10pg). The red cell distribution width (RDW) was slightly elevated at 15.90%. Among Khmer pediatric patients with hypochromic microcytic anemia not attributed to iron deficiency, the prevalence of globin gene mutations was 60.60%. The most common mutation was HbE (c.79G>A), accounting for 27.27%, followed by αThalassemia (18.18%). Notably, 12.12% of cases carried coexisting α-Thalassemia /HbE mutations, and 3.03% carried β-Thalassemia/HbE mutations. Conclusions: The HbE mutation was the most prevalent, followed by α-Thalassemia and compound α-Thalassemia/HbE mutations. The lowest prevalence was observed in β-Thalassemia/HbE cases. Remarkably, 28.57% of patients with a normal hemoglobin phenotype were still found to carry globin gene mutations.