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目的了解贫血患儿β-地中海贫血(地贫)发生情况、基因类型及频率。方法对2 685例患儿中HbA2和HbF升高者进行β-地贫基因检测,确诊β-地贫携带或患者再进行α-地贫基因检测。结果 2685例患儿中检出β-地贫929例(34.60%),31种基因类型,其中纯合子42例,双重杂合子128例。包括10种基因突变位点1563个,CD41-42(-TCTT)、CD17(A→T))、IVS-Ⅱ-654(C→T)、CD71-72(+A)、-28(A-G)和CD26(G→A)是主要突变类型,其携带率为19.07%、11.47%、3.38%、2.50%、1.98%和1.38%。β合并α-地贫检出率为5.18%。结论南宁地区贫血患儿β-地贫基因突变率及其合并α-地贫发生率均较高,应加强地贫干预工作,以避免中间型或重型地贫儿的出生,这对提高人口素质有重要意义。
Objective To investigate the incidence, gene type and frequency of β-thalassemia (thalassemia) in children with anemia. Methods The β-thalassemia gene was detected in 2 685 children with elevated HbA2 and HbF. The patients with β-thalassemia were confirmed or the gene of α-thalassemia was detected. Results Among 2685 cases, 929 (34.60%) cases of β-thalassemia were found, of which 31 were genotypes, including 42 cases of homozygote and 128 cases of double heterozygote. Including 1563 mutations of 10 genes, CD41-42 (-TCTT), CD17 (A → T), IVS-Ⅱ-654 (C → T), CD71-72 (+ A) And CD26 (G → A) were the major mutation types with carrier rates of 19.07%, 11.47%, 3.38%, 2.50%, 1.98% and 1.38%. β combined with α-thalassemia detection rate of 5.18%. Conclusions The prevalence of β-thalassemia and its incidence of combined α-thalassemia in children with anemia in Nanning are high. Intervention for thalamic treatment should be strengthened to avoid the birth of intermediate or severe thalassemia. There’s important meaning.