深圳地区两种类型的珠蛋白生成障碍性贫血的基因型及表型研究

摘要

目的：分析深圳地区人群的αβ复合型珠蛋白生成障碍性贫血及非缺失型α-珠蛋白生成障碍性贫血的血液学特征及基因突变类型。方法收集2013年5月至2014年5月血液学及血红蛋白电泳筛查阳性的3082例疑似珠蛋白生成障碍性贫血患者,检测中国人群中最常见的17种β-珠蛋白生成障碍性贫血突变、3种α-珠蛋白生成障碍性贫血点突变及3种缺失型α-珠蛋白生成障碍性贫血基因改变。结果1042例经基因确诊的珠蛋白生成障碍性贫血患者中有αβ复合型珠蛋白生成障碍性贫血35例,非缺失型α-珠蛋白生成障碍性贫血60例。αβ复合型珠蛋白生成障碍性贫血表现为小细胞低色素及血红蛋白(Hb)A2的升高,β-珠蛋白生成障碍性贫血基因以 CD41-42(37.1%)、IVS-2-654(31.4%)、-28(14.3%)突变较为常见,α-珠蛋白生成障碍性贫血基因则以--SEA (42.1%)为主；非缺失型α-珠蛋白生成障碍性贫血中,αCSα/αα,αQSα/αα表现为小细胞低色素,αWSα/αα携带者则无血液学异常表现,αCSα/αα伴有 Hb A2的降低,Hb CS、Hb WS、Hb QS 的构成比依次为54.1%、31.1%、14.8%。两类患者的红细胞、平均红细胞 Hb 浓度、红细胞体积分布宽度均在正常值范围。结论深圳地区αβ复合型珠蛋白生成障碍性贫血发生率为1.14%,非缺失型α-珠蛋白生成障碍性贫血发生率为1.9%,两类患者均缺乏特异性的血液学指标变化。%Objective To analyze the hematological features and types of gene mutation of αβ compound thalassemia and non-deletion α thalassemia in Shenzhen area.Methods 3 082 patients with suspected thalassemia screened by the hematological and hemoglobin electrophoresis screening in our hospital from May 2013 to May 2014 were collected and detected the gene changes in the commonest 1 7 kinds of β thalassemia mutation,3 kinds of αthalassemia point mutation and 3 kinds of deletion α thalassemia among Chinese population.Results Among 1 042 cases of thalassemia definitely diagnosed by gene,35 cases were αβ compound thalassemia and 60 cases were non-deletionαthalassemia.αβcompound thalassemia was manifested by microcytic hypochromic anemia and the increase of Hb A2.The mutations of CD41-42(37.1%),IVS-2-654 (31.4%)and-28 (14.3%)inβthalassemia gene were com-mon,while the αthalassemia gene was dominated by--SEA (42.1%);in non-deletionαthalassemia,αCSα/ααandαQSα/ααwere manifested by microcytic and hypochromic,αWSα/αα carriers had no hematological abnormal manifestation andαCSα/ααwas accompanied by the Hb A2 decrease,the constituent ratio of Hb CS,Hb WS and Hb QS were 54.1%, 31.1% and 14.8% respectively.Conclusion The occurrence rates of αβ compound thalassemia and non-deletion αthalassemia in Shenzhen area are 1.14% and 1.9% respectively.The patients of these two kinds of thalassemia all lack the changes of specific hematological indexes.