[1]黄利华,刘冬霞,李伟明,等.广东省清远地区人群α-地中海贫血基因型及临床表型特点[J].第三军医大学学报,2017,39(06):584-588.
 Huang Lihua,Liu Dongxia,Li Weiming,et al.Genotypes and clinical characteristics of α-thalassemia of neonates in Qingyuan City, Guangdong[J].J Third Mil Med Univ,2017,39(06):584-588.
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广东省清远地区人群α-地中海贫血基因型及临床表型特点(/HTML )
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《第三军医大学学报》[ISSN:1000-5404/CN:51-1095/R]

卷:
39卷
期数:
2017年第06期
页码:
584-588
栏目:
临床医学
出版日期:
2017-03-30

文章信息/Info

Title:
Genotypes and clinical characteristics of α-thalassemia of neonates in Qingyuan City, Guangdong
作者:
黄利华刘冬霞李伟明李扬秋
暨南大学血液病研究所;清远市妇幼保健院
Author(s):
Huang Lihua Liu Dongxia Li Weiming Li Yangqiu

Institute of Hematology, Jinan University, Guangzhou, 510630; Qingyuan Maternity and Child Healthcare Hospital, Qingyuan, Guangdong Province,511500, China

关键词:
&alpha-地中海贫血基因型广东省
Keywords:
&alpha-thalassemia genotype  Guangdong province
分类号:
R195.4;R394.5;R556.61
文献标志码:
A
摘要:

目的分析2014-2015年广东省清远地区5 063例疑诊地中海贫血样本中α地贫基因型分布及其临床特点。方法采用单管多重聚合酶链反应法结合跨越断裂点PCR(gapPCR)检测人群基因组DNA样本中3种α珠蛋白基因缺失--SEA、-α3.7、-α4.2;采用PCR反向点杂交法(PCRRDB)技术检测3种常见的α珠蛋白基因突变αWSα、αCSα、αQSα。结果5 063例受检标本中,检出α地贫基因1 735例,基因携带率为34.27%。α珠蛋白基因缺失型α地贫为1 598例(92.10%),其中以东南亚杂合子--SEA/αα基因型最常见(1 265例,72.91%),其次为右缺失型杂合子-α3.7/αα(233例,1343%)和左缺失型杂合子-α4.2/αα(97例,5.59%),而纯合子-α4.2/-α4.2为2例,双重杂合子-α3.7/-α4.2为1例。非缺失型α地贫为80例(4.61%),包括ααWS/αα 37例、ααQS/αα 22例、ααCS/αα 20例及ααWS/ααCS 1例。另外,双重杂合子-α3.7/ααWS 3例。血红蛋白H病(Hb H)为54例(311%),包括--SEA/-α3.7 33例、--SEA/-α4.2 16例、--SEA/ααWS 4例、--SEA/ααQS 1例。1 735例α地中海贫血中,静止型409例,轻型1 272例(血液学表现为轻度小细胞低色素贫血),Hb H病54例,临床表现为中重度贫血,可伴有肝脾肿大、黄疸等。结论广东省清远地区α地中海贫血以东南亚杂合子--SEA/αα基因型最常见,临床存在较多的轻型α地贫患者,该地区人群婚配生育Hb H病或重型α地贫患儿的概率较高。

Abstract:

ObjectiveTo analyze the distribution of genotypes and clinical characteristics of αthalassemia among the neonates in Qingyuan city, Guangdong. MethodsThe genotypes and clinical phenotypes of αthalassemia were characterized in 5 063 neonates who were suspected with thalassemia during 2014 to 2015 in Qingyuan city, Guangdong. αGlobin gene deletion (--SEA, -α3.7 and -α4.2) and mutation (αWSα, αCSα and αQSα) were detected in DNA samples from peripheral blood cells of the neonates using gap single polymerase chain reaction (GSPCR) and PCRreverse dot blotting (PCRRDB), respectively. ResultsαThalassemia was identified in 1 735 neonates (34.27%) out of 5 063 neonates. The frequency alteration was αglobin gene deletion, the most common genotype was --SEA/αα (1 265 cases, 72.91%), followed by the right deletion, heterozygous -α3.7/αα (233 cases, 13.43%) and the left deletion heterozygous -α4.2/αα (97 cases, 5.59%). Two cases of homozygote (-α4.2/-α4.2) deletion and one case of double heterozygote (-α3.7/-α4.2) deletion were identified. Nondeletion alteration of αglobin gene was identified in 80 cases (4.61%), including ααWS/αα (37 cases), ααQS/αα (22 cases), ααCS/αα (20 cases) and ααWS /ααCS (1 case), and in addition, double heterozygote -α3.7/ααWS was identified in 3 cases. HbH disease was identified in 54 cases (3.11%), in which --SEA/-α3.7 was found in 33 cases, 16 cases with --SEA/-α4.2, 4 cases with --SEA/ααWS and 1 case with --SEA/ααQS genotype. Among 1 735 cases of αthalassemia, 409 cases belonged to silent type without hematological alteration, and 1 272 cases belonged to slight type with mild small cell hypochromic anemia. Hb H disease was identified in 54 cases, and the patients showed moderate or severe anemia, with or without hepatosplenomegaly and jaundice. ConclusionThe most common genotype of αthalassemia among the populations in Qingyuan is heterozygous --SEA/αα. There are more patients with mild αthalassemia, resulting in high risk of birthing the neonates with Hb H disease or severe αthalassemia.

更新日期/Last Update: 2017-03-31