摘要: |
目的:探讨山东地区新生儿地中海贫血筛查的阳性率和基因突变类型。方法:选取2016年7月至2017年12月山东省脐带血造血干细胞库异体库新生儿脐血16 098例。应用Helena血红蛋白电泳仪对所有脐带血进行血红蛋白电泳测定,对测定结果为地中海贫血阳性病例实施基因检测分析。结果:在16 098例脐带血样本中,共检出血红蛋白异常病例105例,筛查阳性率为0.65%。基因检测结果为α-地中海贫血者50例,筛查符合率为81.97%;β-地中海贫血为5例,筛查符合率为25%;检出异常血红蛋白20例,筛查符合率为83.33%,其中Hb D 15例,Hb G 2例,Hb J、Hb E和Hb H各1例。α-地中海贫血基因构成中--SEA/αα、-α3.7/αα和-α4.2/αα 3种类型占比最多,分别为0.10%、0.16%和0.03%,此外--Thai/αα、αCSα/αCSα和αQSα/αQSα各检出1例;β-地中海贫血共检出5例,均为βCD26/βN。结论:相比南方地区,山东地区地中海贫血发生率偏低,地中海贫血类型具有一定的地区特点。 |
关键词: 脐带血 地中海贫血 血红蛋白检测 基因检测 |
DOI:10.12025/j.issn.1008-6358.2020.20201075 |
分类号:R556 |
基金项目: |
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Screening and genetic diagnosis of infant thalassemia in Shandong province |
LIU Rui1, ZHU Na1, LUO Meng1, ZHAO Dan1, CHU Zhong-hua2
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1.Shandong Cord Blood Bank, Jinan 250102, Shandong, China;2.Department of Hematology, Qilu Hospital, Shandong University, Jinan 250102, Shandong, China
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Abstract: |
Objective:To explore on the result of thalassemia screening and genetic diagnosis for infants from Shandong region.Methods:Between July 2016 and December 2017, 16 098 cases of neonatal cord blood from the allogeneic bank were selected as subjects. Helena hemoglobin electrophoresis was used to determine hemoglobin in all cord blood. Genetic analysis was performed for cases with positive results for thalassemia.Results:Among the 16 098 cord blood samples, a total of 105 cases with abnormal hemoglobin were detected, with a positive screening rate of 0.65%. Genetic test results showed that 50 cases were diagnosed as α-thalassemia, 5 cases were diagnosed as β-thalassemia. The coincidence rates of α-thalassemia and β-thalassemia were 81.97% and 25%, respectively. In the genetic makeup of α-thalassemia, --SEA/αα, -α3.7/αα, and -α4.2/αα accounted for the most, 0.10%, 0.16%, and 0.03%, respectively. In addition, --Thai/αα, αCSα/αCSα, αQSα/αQSα were detected in one case each. Five cases of β -thalassemia were detected, all of which were βCD26/βN. Conclusions:Compared with the southern region, the incidence of thalassemia in Shandong is lower, and the types of thalassemia have certain regional characteristics. |
Key words: cord blood thalassemia hemoglobin electrophoresis genetic testing |