摘要
目的了解葡萄糖-6-磷酸脱氢酶(G-6-PD)活性范围与地中海贫血之间的关系,探讨G6PD活性检测在地中海贫血诊断中的意义。方法利用血液学初筛地中海贫血高危人群,高效液相色谱法(HPLC)鉴别地贫亚型,GAP-PCR和反向斑点杂交技术(reverse dot blot,RDB)诊断α、β地贫基因。酶速率法检测地贫基因携带人群的G6PD活性,分为正常组和G6PD增高组。结果 HbH病、轻型β、α复合β、α地贫-1(标准型α地贫)、α地贫-2(静止型α地贫)、非缺失型α地贫的G6PD活性均有不同程度的增高,随地贫严重程度G6PD活性增高程度成正相关。本次研究未发现20岁以上重症地贫患者。结论 G6PD活性升高对地中海贫血有辅助诊断价值,G6PD活性增高的程度不同对地贫分类具有参考意义。
Objective： Try to understand the relation between glucose -6 -phosphate dehydrogenase （G6PD） activity range and thalassemia, and investigate the meaning of G6PD inspection during diagnosis of thalassemia. Metheds： Blood examination screened high risk population of thalassemia, hemoglobin subtypes were detected by HPLC. α -thalassemia and β -thalassemia were tested by GAP- PCR and reverse dot blot （RDB）. The G6PD activities of population carrying thalassemia gene were tested by rate method, divided normal group and increased group. Results ： The G6PD activities of hemoglobin H disease, minor β, Standard α, Stationary ct and non - deletion type α thalassemia all have various degrees of increase. This research didnt find out any severe patient with thalas- semia being over 20 - year - old. Conclusion ： The increasing of G6PD plays a supporting role in the diagnosis of thalassemia. And the difference of the increasing degrees has reference value for the classifycation of thalassemia.
出处
《中国优生与遗传杂志》
2013年第5期25-26,共2页
Chinese Journal of Birth Health & Heredity
基金
广东省计生委基金项目资助(2010307)
