中国四川地区汉族及藏族人群地中海贫血基因分型调查

目的 调查四川地区汉族和藏族人群地中海贫血（地贫）基因的携带率及基因分型，分析地贫患者地贫基因分型的分子流行病学特点。方法 采用SYSMEX XE-2100全自动血细胞分析仪检测1 147例汉族成人和613例藏族成人的红细胞参数，对平均红细胞体积（mean corpuscular volume，MCV）--SEA/αα为主；β-地贫基因携带率为1.39%（16/1 147），基因型以CD17和IVS-Ⅱ-654为主；αβ复合型地贫检出2例。33例地贫基因阳性标本的MCH均80 fL，最大为83.7 fL。613例藏族中仅有1例为地贫基因携带者。结论 四川地区汉族人群地贫基因携带率较高，存在有多种致病基因突变类型和基因型，应进一步加强地贫基因的筛查力度，尤其需要特别重视MCV＜84 fL、MCH＜27 pg 人群的地贫筛查，而四川藏族人群不推荐常规进行地贫筛查。基因检测技术在指导遗传咨询工作中具有不可或缺的地位。

Genotype of Thalassemia in Han Chinese and Tibetans in Sichuan Province, China

Objective To investigate the carrying rates and genotype distribution of thalassemia gene in Han people and Tibetans in Sichuan district. Methods A total of 1 147 Han adults and 613 adult Tibetans were included in this study. Hematological parameters were measured with Sysmex XE-2100 automatic blood cell analyzer. Alpha thalassemia and beta thalassemia gene analyses were further performed on samples with a mean corpuscular volume (MCV) --SEA/αα as the most common genotype; 1.39% (16/1 147) carried beta thalassemia gene, with CD17 and IVS-Ⅱ-654 as the most common genotype. There were 2 cases with both alpha and beta thalassemia. Low MCH (<27 pg) was found in all 33 cases with positive thalassemia genes. However, 5 people with positive thalassemia genes had higher than 80 fL MCV, with the highest reaching 83.7 fL. Out of 613 Tibetans, only one was found to have positive thalassemia genes. Conclusion Sichuan Han population carry a high level of thalassemia genes, with various genotypes and pathogenic gene mutation types. Han people with < 84 fL MCV and <27 pg MCH were recommended for thalassemia gene screening. Tibetans were not recommended for routine screening of thalassemia.