α-地中海贫血患者血液学表型和基因型分析  

Analysis on hematological phenotype and genotype of α-thalassemia

作　　者：李秋燕 蔡钦泉[2] 莫红梅 

机构地区：[1]广东医科大学附属医院妇产科基础研究室,广东广州524000 [2]深圳市罗湖区人民医院检验科,广东深圳518000

出　　处：《国际检验医学杂志》2017年第21期3006-3008,共3页International Journal of Laboratory Medicine

摘　　要：目的分析深圳市罗湖区α-地中海贫血患者基因型分布特点,以及血液学表型和基因型的关系。方法选取2016年8-10月该院确诊的α-地中海贫血患者209例,分为静止型组(58例)、标准型组(138例)、中间型组(4例)和非缺失型组(9例),同时选取同期健康体检者25例作为对照组,采用全自动毛细管电泳检测血红蛋白A2(HbA2),采用全自动血细胞分析仪检测平均红细胞体积(MCV)、平均红细胞血红蛋白含量(MCH)和平均红细胞血红蛋白浓度(MCHC)等血液学指标。结果 209例患者中共检出8种突变基因型,其中--SEA/αα缺失型占66.03%,-α3.7/αα缺失型占22.97%;静止型组、中间型组、标准型组和非缺失型组MCV、MCH和MCHC均明显低于对照组,差异有统计学意义(P<0.05);中间型组HbA2低于正常对照组,差异有统计学意义(P<0.05);静止型组、标准型组和非缺失型组HbA2与正常对照组比较,差异无统计学意义(P>0.05)。结论深圳市罗湖区α-地中海贫血患者基因突变以--SEA/αα缺失型为主,MCV、MCH和MCHC等血液学指标可作为α-地中海贫血的联合筛查指标,但对-α3.7/αα缺失型α-地中海贫血患者存在漏诊可能性。Objective To analyze the genotype distribution characteristics in the patients withα-thalassemia and the relationship between hematological phenotype and genotype.Methods 209 cases ofα-thalassemia in our hospital from August to October 2016 were selected and divided into the silence type group（58 cases）,standard type group（138 cases）,intermediate type group（4 cases）and non-deletion type group（9 cases）.Contemporaneous 25 subjects undergoing healthy physical examination were selected as the normal control group.The automatic capillary electrophoreses was adopted to detect HbA2.The hematological indicators of MCV,MCH and MCHC were detected by using the automatic blood cells analyzer.Results Among 209 cases ofα-thalassemia,8 mutation genotypes were detected,in which--SEA/ααdeletion type accounted for 66.03%,-α3.7/ααdeletion type accounted for22.97%.The levels of MCV,MCH and MCHC in the silence type group,intermediate type group,standard type group and non-deletion type group was significantly lower than that in the normal control group,the difference was statistically significant（P0.05）,the HBA2 level in the intermediate type group was lower than that in the normal control group,the difference was statistically significant（P0.05）,but the HbA2 level had no statisticval difference between the silence type group,standard type group and non-deletion type group with the normal control group（P0.05）.Conclusion The gene mutation in the patients withα-thalassemia in Luohu District of Shenzhenis City is dominated by the deletion type of--SEA/αα.The hematological indicators such as MCV,MCH and MCHC can serve as the combined screening indexes ofα-thalassemia,but for the patients with-α3.7/ααgenotypeα-thalassemia,there is the possibility of missed diagnosis.

关 键 词：Α-地中海贫血 非缺失型 静止型 标准型 中间型 

分 类 号：R556.61[医药卫生—血液循环系统疾病]