摘要
目的研究广西武鸣地区壮族人群α-地中海贫血(简称地贫,下同)和β-地贫的初筛阳性率、基因突变类型及少见地贫基因型病例的特点。方法收集2016年8月—2018年8月期间入院的9215例新生儿脐带血进行α-地贫筛查,对同期4778例武鸣籍壮族成人进行β-地贫筛查。在筛查出的阳性病例中,选择部分病例做地贫基因检测和型别分析,同时联合分析部分患者的表型(血常规和血红蛋白电泳数据),对表型和基因不一致的进一步外送测序。结果在9215例脐血样本中,检出1322例有Hb Bart’s(α-地贫),α-地贫筛查阳性率为14.35%(1322/9215),4778例壮族成人样本中,检出345例为β-地贫筛查阳性,β-地贫筛查阳性率为7.22%(345/4778),总阳性率为21.57%(14.35%+7.22%)。在筛查阳性病例中有1030例进行了地贫基因检测,734例在本院确诊为地贫,其中α-地贫447例,占60.90%(447/734),β-地贫243例,占33.11%(243/734),α复合β地贫44例,占5.99%(44/734),α-地贫、β-地贫、α复合β地贫三者之比约为11∶6∶1。α-地贫排在前四位的依次为--SEA/αα、^-α^(3.7/αα、ααCS/αα、--SEA/ααCS。β-地贫排在前四位的依次为β41-42/βN、β17/βN、β71-72/βN、βE/βN。α-地贫以静止型和轻型为主,占48.78%。1030例进行地贫基因检测中有6例出现表型和基因型不一致的病例进一步外送测序,发现4例少见地贫基因型,分别为少见β-地贫(CD-52)2例,β-地贫(CD-98)1例,α-地贫THAI 1例。结论武鸣地区壮族人群为地贫高发人群,α-地贫CS突变率比较高,α-地贫静止型和轻型比较多。临床中应注意少见型地贫的出现,防止漏检和重症地贫患儿的出生。
Objective To explore the positive rate of primary screening forα-thalassemia andβ-thalassemia,types of gene mutationin and characteristics of the rare cases of thalassemia genotype in Zhuang population in Guangxi Wuming district.Methods A total of 9,215 neonatal umbilical cord blood samples were collected from neonates cared in our hospital from August 2016 to August 2018 for screening for α-thalassemia,in the same period,4778 adults of Zhuang nationality in Wuming district were screened for β-thalassemia.Thalassemia gene detection and type analysis were performed for some of the positive cases detected by screening.At the same time,the phenotypes (blood routine test and hemoglobin electrophoresis data) of some patients were analyzed together,further extraneous sequencing was performed for the cases with inconsistency of phenotypes and genes.Results In 9215 cases of umbilical cord blood samples,1322 cases were checked out with Hb Bart's (α-thalassemia),the positive rate of α-thalassemia was 14.35%(1322/9215) in screening.Among 4778 Zhuang adult samples,345 cases were found with positiveβ-thalassemia in screening,and the positive rate of β-thalassemia screening was 7.22%(345/4778),with a total positive rate of 21.57%(14.35%+7.22%).Among the positive screened cases,1030 of them received thalassemia gene test,and 734 were diagnosed as thalassemia in our hospital,among them,447 cases were α-thalassemia,accounting for 60.90%(447/734),243 cases were β-thalassemia,accounting for 33.11%(243/734),and 44 cases wereαcombined withβthalassemia,accounting for 5.99%(44/734).The ratio ofα-thalassemia,β-thalassemia andαcombined withβthalassemia was approximately 11∶6∶1.The top four genotypes of α-thalassemia were --^SEA /αα、-α^3.7 /αα、αα^CS /αα、--^SEA /αα^CS.The top four genotypes of β-thalassemia were β^41-42 /β^N、β^17 /β^N、β^71-72 /β^N 、β^E/β^N.α-thalassemia was mainly static and light type,accounting for 48.78%.Among the 1030 cases of thalassemia gene testing,6 cases showed phenotype and genotype inconsistency and were further sent out to detect the gene sequencing,and 4 cases of rare thalassemia genotype were found,and they were 2 cases of rareβ-thalassemia (CD-52),1 case ofβ-thalassemia(CD-98),1 case of α-thalassemia THAI.Conclusion The Zhuang population in Wuming district is the population with high incidence of thalassemia,and the CS mutation rate ofα-thalassemia is relatively high.The static and light types of α-thalassemia are common.Clinical attention should be paid to the emergence of rare thalassemia to prevent missed detection and the birth of children with severe thalassemia.
作者
黄珍艳
Huang Zhenyan(Department of Clinical Laboratory of Wuming Hospital Affiliated to Guangxi Medical University,Nanning 530199,Guangxi,China)
出处
《右江民族医学院学报》
2019年第2期179-182,186,共5页
Journal of Youjiang Medical University for Nationalities
关键词
壮族
地中海贫血
地贫筛查
基因型
Zhuang nationality
thalassemia
thalassemia screening
genotype
