泰国缺失型α-珠蛋白生成障碍性贫血临床血液学表型分析

Study of the hematological character of Thai deletionα-thalassemia

目的探讨泰国型α-珠蛋白生成障碍性贫血的血液学表型,了解其在人群中的检出情况。方法采用标准的血液学分析技术测量红细胞参数与血红蛋白组分,利用单管多重Gap-PCR技术检测α-珠蛋白生成障碍性贫血缺失基因,反向点杂交技术诊断α-珠蛋白生成障碍性贫血点突变基因。结果东南亚缺失型组与泰国缺失型组相比,红细胞计数(RBC)、血红蛋白(HB)、红细胞平均体积(MCV)、红细胞平均血红蛋白量(MCH)、HbA2差异无统计学意义(P>0.05)。健康对照组分别与东南亚缺失型组、泰国缺失型组进行两两比较,其各项血液学指标差异均有统计学意义(P<0.01)。结论血液学指数、血红蛋白电泳提示α珠蛋白生成障碍性贫血,而常规基因检测结果正常或是α-珠蛋白生成障碍性贫血纯合子时,建议进行泰国型缺失型或菲律宾缺失型的筛查,以确保珠蛋白生成障碍性贫血诊断的准确性。

Objective To analsyis the hematological character of Thai deletion α-thalassemia and to survey the incidence in Guangxi. Methods Hematological analysis was performed using standard techniques to measure red blood cell parameters and he- moglobin components. Gap-PCR method and reverse dot blot test system were used to detect α-thalassemia mutation. Results There were no significant difference of red blood cell count（RBC）, hemoglobin（HB）, mean corpuscular volume（MCV）, mean cor- puscular hemoglobin amount（MCH） and HbA2 between Southeast Asian type of α-thalassemia（--SEA） and Thai type of α-thalas- semia（- x~,ai ）（P〉0. 05）. There were significant difference of haematologieal indexes between normal control and Southeast Asian type of α-thalassemia（-- SEA）and also between normal control and Thai type of α-thalassemia （-- Thai）（p〈 0.01 ）. Conclusion There were no significant difference about hematological parameters between Asian type of α-thalassemia（- SEA） and Thai type of α-thalassemia（ - Thai ）. So,molecule diagnose of Thai type of α-thalassemia should be performed.