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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
Genotypes and clinical characteristics of α-thalassemia of neonates in Qingyuan City, Guangdong
- 第三军医大学学报 2017年39卷第6期 页码：584-588
- 作者机构：
1.510630 广州，暨南大学血液病研究所
2.511500 广东 清远, 清远市妇幼保健院
- 作者简介：
[黄利华,E-mail:34043525@qq.com Huang Lihua, E-mail: 34043525@qq.com
- 基金信息：广东省2015年“扬帆计划”博士后扶持项目(粤人才办[2016] 6号)
DOI：10.16016/j.1000-5404.201609192
中图分类号： R195.4;R394.5;R556.61收稿：2016-09-28，
修回：2016-11-01，
纸质出版：2017-06
- 稿件说明：
移动端阅览
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(6):584-588.
Lihua Huang, Dongxia Liu, Weiming Li, et al. Genotypes and clinical characteristics of α-thalassemia of neonates in Qingyuan City, Guangdong[J]. Journal of Third Military Medical University, 2017, 39(6): 584-588.
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(6):584-588. DOI： 10.16016/j.1000-5404.201609192.
Lihua Huang, Dongxia Liu, Weiming Li, et al. Genotypes and clinical characteristics of α-thalassemia of neonates in Qingyuan City, Guangdong[J]. Journal of Third Military Medical University, 2017, 39(6): 584-588. DOI： 10.16016/j.1000-5404.201609192.
摘要
目的
2
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
2
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
、-α
3.7
、-α
4.2
；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α
WS
α、α
CS
α、α
QS
α。
结果
2
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-α
3.7
/αα(233例，13.43%) 和左缺失型杂合子-α
4.2
/αα(97例，5.59%)，而纯合子-α
4.2
/-α
4.2
为2例，双重杂合子-α
3.7
/-α
4.2
为1例。非缺失型α-地贫为80例 (4.61%)，包括αα
WS
/αα 37例、αα
QS
/αα 22例、αα
CS
/αα 20例及αα
WS
/αα
CS
1例。另外，双重杂合子-α
3.7
/αα
WS
3例。血红蛋白H病 (Hb H) 为54例 (3.11%)，包括--
SEA
/-α
3.7
33例、--
SEA
/-α
4.2
16例、--
SEA
/αα
WS
4例、--
SEA
/αα
QS
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
2
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
Objective
2
To analyze the distribution of genotypes and clinical characteristics of α-thalassemia among the neonates in Qingyuan city
Guangdong.
Methods
2
The 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
-α
3.7
and-α
4.2
) and mutation (α
WS
α
α
CS
α and α
QS
α) 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.
Results
2
α-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-α
3.7
/αα (233 cases
13.43%) and the left deletion heterozygous-α
4.2
/αα (97 cases
5.59%). Two cases of homozygote (-α
4.2
/-α
4.2
) deletion and one case of double heterozygote (-α
3.7
/-α
4.2
) deletion were identified. Non-deletion alteration of α-globin gene was identified in 80 cases (4.61%)
including αα
WS
/αα (37 cases)
αα
QS
/αα (22 cases)
αα
CS
/αα (20 cases) and αα
WS
/αα
CS
(1 case)
and in addition
double heterozygote-α
3.7
/αα
WS
was identified in 3 cases. HbH disease was identified in 54 cases (3.11%)
in which--
SEA
/-α
3.7
was found in 33 cases
16 cases with--
SEA
/-α
4.2
4 cases with--
SEA
/αα
WS
and 1 case with--
SEA
/αα
QS
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 jau
ndice.
Conclusion
2
The 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.
关键词
Keywords
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