柳州地区异常血红蛋白Hb Q-Thailand合并地中海贫血筛查情况  

Screening hemoglobin Q-Thailand combined alpha-thalassemia in Liuzhou region

作　　者：黄诚 唐宁 陆碧玉 罗世强 黄际卫 严提珍 蔡稔 

机构地区：[1]柳州市妇幼保健院医学遗传科柳州市出生缺陷预防与控制重点实验室,广西柳州545001

出　　处：《中国优生与遗传杂志》2017年第11期26-27,34,共3页Chinese Journal of Birth Health & Heredity

基　　金：广西壮族自治区卫生和计划生育委员会自筹经费科研课题(Z2015191);国家自然科学基金项目(81360091);卫生行业科研专项项目(201202017)

摘　　要：目的探讨广西柳州地区地中海贫血筛查中异常血红蛋白Hb Q-Thailand的检测情况。方法回顾统计我院2016年4月至2016年3月共20 167例地贫筛查结果,以高效液相色谱HPLC法在4.60-4.70min检测到异常血红蛋白峰为指征筛出阳性病例。结果在20 167例地贫筛查结果中检出Hb Q-Thailand共21例,人群携带率0.078%;HPLC筛查阳性病例追踪到有进行地贫基因检测的17例,其中有-α4.2/αα有14例,-α4.2/-α4.2有1例,--SEA/-α4.2有2例;两例Hb Q-Thailand合并H病患者Hb A含量极低,而Hb Q-Thailand分别为63%和73.5%,说明其具有一定载氧代偿功能。结论 Hb Q-Thailand是柳州地区常见的一种异常血红蛋白,在地贫筛查中发现Hb Q-Thailand峰应引起重视,需对该人群进行遗传指导。Objective：To investigate the detection of abnormal hemoglobin Hb Q-Thailand in thalassemia screening in Liuzhou area of Guangxi. Methods：A total of 20 167 cases were retrospective studied after thalassemia screening. All the sample were screened by high performance liquid chromatography（HPLC）. Cases with peak retention time in 4.60-4.70 minutes were positive for Hemoglobin Q-Thailand. Results：21 cases（0.078%）were positive for Hb Q-Thailand in 20 167 cases. 17/21 were positive for α-thalassemia,including 14 cases with-α4.2/αα,one case with-α4.2/-α4.2,two cases with--SEA/-α4.2. Hemoglobin Hb Q-Thailand in the two Hb H cases（--SEA/-α4.2）is 63% and 73.5%,respectively. It shows that Hb Q-Thailand has the function of oxygen carrying compensation. Conclusion：Hb Q-Thailand is a common abnormal hemoglobin in Liuzhou region. Hb Q-Thailand screening and genetic consulting is necessary in Liuzhou region.

关 键 词：地中海贫血 HPLC HB Q-Thailand 

分 类 号：R55[医药卫生—血液循环系统疾病]