【摘要】 目的：分析β-地中海贫血的基因型，明确是否存在新的突变。方法：对病例进行血液学分析、血红蛋白（Hb）分析及荧光PCR及DNA测序分析地中海贫血基因突变类型。结果：共194例确诊为β-地中海贫血，其中1例为新的β-珠蛋白基因内含子Ⅱ基因突变杂合子。病例男患儿，2岁，临床有轻度贫血。Hb分析结果Hb A 92.9%,Hb A₂、Hb F均升高，Hb A₂为4.2%,Hb F为2.9%。基因分析显示为杂合子β-珠蛋白基因IVS-Ⅱ-561至IVS-Ⅱ-562有1个碱基缺失和13个碱基插入突变，基因突变类型为IVS-Ⅱ-561—562（-1 bp,+13 bp）。结论：新的β-珠蛋白基因IVS-Ⅱ-561至IVS-Ⅱ-562突变的杂合子导致β-地中海贫血，临床表现为轻度贫血，Hb A₂水平升高。更多还原

【Abstract】 Objective: To analyze the genotype of β-globin gene and try to confirm whether novel mutations existed. Methods: Blood routine analysis and hemoglobin（Hb） analysis were performed on the cases. The thalassemia genotypes were analyzed by fluorescence PCR and DNA sequencing. Results: A total of 194 cases were diagnosed with β-thalassemia, and one of them was heterozygous for a novel mutation in intron Ⅱ of the β-globin gene. The case was a two-year-old boy with mild anemia in clinical. The results of Hb analysis showed Hb A was 92.9%, with an increase in Hb A₂（4.2%） and Hb F（2.9%）. DNA sequencing showed that there was a heterozygous mutation in the β-globin genes IVS-Ⅱ-561 to IVS-Ⅱ-562, involving one base deletion and 13 base insertion mutation. The genotype was identified as IVS-Ⅱ-561-562（-1 bp, +13 bp）. Conclusion: The heterozygosis of the novel IVS-Ⅱ-561 to IVS-Ⅱ-562 mutation in the β-globin gene results in β-thalassemia, with mild anemia and elevated Hb A₂ levels.更多还原