Genotypes and clinical characteristics of α-thalassemia of neonates in Qingyuan City, Guangdong

Lihua Huang; Dongxia Liu; Weiming Li; Yangqiu Li

doi:10.16016/j.1000-5404.201609192

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Genotypes and clinical characteristics of α-thalassemia of neonates in Qingyuan City, Guangdong

更新时间：2026-01-09

- Genotypes and clinical characteristics of α-thalassemia of neonates in Qingyuan City, Guangdong
- Journal of Third Military Medical University Vol. 39, Issue 6, Pages: 584-588(2017)
- 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：
- 基金信息：
  
  the Post-doctorial Supporting Project of Guangdong Provincial "Setting Sail Plan" in 2015(粤人才办[2016] 6号)
- DOI：10.16016/j.1000-5404.201609192
  CLC： R195.4;R394.5;R556.61
- Received：28 September 2016，
  
  Revised：2016-11-01，
  
  Published：2017-06
- 稿件说明：
移动端阅览
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：

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

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

、-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

α、α

α。

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-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

/αα 37例、αα

/αα 22例、αα

/αα 20例及αα

/αα

1例。另外，双重杂合子-α

3.7

/αα

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

4例、--

SEA

/αα

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

Objective

To analyze the distribution of genotypes and clinical characteristics of α-thalassemia among the neonates in Qingyuan city

Guangdong.

Methods

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

α and α

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

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

/αα (37 cases)

αα

/αα (22 cases)

αα

/αα (20 cases) and αα

/αα

(1 case)

and in addition

double heterozygote-α

3.7

/αα

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

and 1 case with--

SEA

/αα

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

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

references

Brancaleoni V, Di Pierro E, Motta I, et al. Laboratory diagnosis of thalassemia[J]. Int J Lab Hematol, 2016, 38(Suppl 1): 32-40. DOI:10.1111/ijlh.12527

周万军, 徐湘民. α和β地中海贫血无创产前诊断研究进展[J].国际生殖健康/计划生育杂志, 2014, 33(3): 178-181.

Zhou W J, Xu X M. Non-invasive prenatal diagnosis of α and β-thalassemia:A minireview[J]. Journal of International Reproductive Health/Family Planning, 2014, 33(3): 178-181.

邓捷, 刘新质, 刘颖琳.应用平均红细胞体积测定法及红细胞脆性一管定量法筛查地中海贫血[J].中华妇产科杂志, 2000, 35(10): 610. DOI:10.3760/j.issn:0529-567X.2000.10.011

Deng J, Liu X Z, Liu Y L. Evaluation of red cell mean corpuscular volume and simple tube red cell osmotic fragility quantitative test in detection of thalassemia[J]. Chinese Journal of Obstetrics and Gynecology, 2000, 35(10): 610. DOI:10.3760/j.issn:0529-567X.2000.10.011

钟泽艳, 陈剑虹, 贺海林, 等.广东省惠州地区基于医院水平的地中海贫血基因突变谱分析[J].中国计划生育学杂志, 2015, 23(6): 371-375. DOI:10.3969/j.issn.1004-8189.2015.06

Zhong Z Y, Chen J H, He H L, et al. Analysis on mutation spectrum of thalassemia gene based on the level of hospital in huizhou region[J]. Chinese Journal of Family Planning, 2015, 23(6): 371-375. DOI:10.3969/j.issn.1004-8189.2015.06

黄金芬, 毛锦芳, 郭静.新生儿脐血HbBart's定量分析在α-地中海贫血筛查中的应用[J].中国优生与遗传杂志, 2016, 24(5): 93-94.

Huang J F, Mao J F, Guo J. Application of quantitative analysis for cord blood hemoglobin Bart's to screen α-thalassemia[J]. Chinese Journal of Birth Health&Heredity, 2016, 24(5): 93-94.

杜丽, 尹爱华, 张彦, 等. 2171例地中海贫血产前基因诊断回顾性分析[J].国际妇产科学杂志, 2012, 39(2): 208-210. DOI:10.3969/j.issn.1674-1870.2012.02.027

Du L, Yin A H, Zhang Y, et al. Prenatal diagnosis of thalassemia in 2 171 cases[J]. Journal of International Obstetrics and Gynecology, 2012, 39(2): 208-210. DOI:10.3969/j.issn.1674-1870.2012.02.027

Xu X M, Zhou Y Q, Luo G X, et al. The prevalence and spectrum of alpha and beta thalassaemia in Guangdong Province: implications for the future health burden and population screening[J]. J Clin Pathol, 2004, 57(5): 517-522. DOI:10.1136/jcp.2003.014456

游雪云, 刘艳秋, 吴敏.毛细管电泳在β地中海贫血中的应用研究[J].实验与检验医学, 2014, 32(5): 517-519. DOI:10.3969/j.issn.1674-1129.2014.05.009

You X Y, Liu Y Q, Wu M. Application research of the capillary electrophoresis in β-thalassemia[J]. Experimental and Laboratory Medicine, 2014, 32(5): 517-519. DOI:10.3969/j.issn.1674-1129.2014.05.009

马星卫, 许吟, 戴薇, 等.贵阳地区1 143例孕妇地中海贫血筛查及基因检测结果分析[J].重庆医学, 2013, 42(17): 1990-1991. DOI:10.3969/j.issn.1671-8348.2013.17.023

Ma X W, Xu Y, Dai W, et al. Analysis of the results of screening and genetic diagnosis of thalassemia for 1 143 pregnant women from guiyang region[J]. Chongqing Medicine, 2013, 42(17): 1990-1991. DOI:10.3969/j.issn.1671-8348.2013.17.023

袁晖, 吴维青, 吴晓霞, 等.深圳地区育龄人群地中海贫血基因型分布调查[J].中山大学学报:医学科学版, 2012, 33(4): 553-557.

Yuan H, Wu W Q, Wu X X, et al. A survey on distribution of thalassemic genotypes in reproductive population in shenzhen[J]. Journal of Sun Yat-sen University (Medical Sciences), 2012, 33(4): 553-557.

Pharephan S, Sirivatanapa P, Makonkawkeyoon S, et al. Prevalence of α-thalassaemia genotypes in pregnant women in northern Thailand[J]. Indian J Med Res, 2016, 143(3): 315-322. DOI:10.4103/0971-5916.182622

于洁, 宪莹, 姚秀云, 等.重庆市学龄前儿童α地中海贫血的分子流行病学研究[J].中华血液学杂志, 2014, 35(5): 419-423. DOI:10.3760/cma.j.issn.0253-2727.2014.05.009.

YuJ, Xian Y, Yao X Y, et al. Prevalence and molecular analysis of α-thalassemia in preschool children in Chongqing city[J]. Chinese Journal of Hematology, 2014, 35(5): 419-423. DOI:10.3760/cma.j.issn.0253-2727.2014.05.009

阙婷, 李旺, 李东明, 等.孕早期胎儿地中海贫血基因型与血液学表型和产前诊断适应证的遗传研究[J].实用妇产科杂志, 2014, 30(6): 435-439.

Que T, Li W, Li D M, et al. Application of invasive prenatal diagnosis for fetal thalassemia genotype and haematological phenotype in early pregnancy[J]. Journal of Practical Obstetrics and Gynecology, 2014, 30(6): 435-439.

徐两蒲, 黄海龙, 何德钦, 等.福建地区孕妇α地中海贫血基因突变类型及产前诊断[J].实用妇产科杂志, 2011, 27(11): 860-863. DOI:10.3969/j.issn.1003-6946.2011.11.024

Xu L P, Huang H L, He D Q, et al. Analysis of α-thalassemia gene mutations and prenatal diagnosis in Fujian area[J]. Journal of Practical Obstetrics and Gynecology, 2011, 27(11): 860-863. DOI:10.3969/j.issn.1003-6946.2011.11.024

李燕, 黄善忠, 钟伟明.广西贵港地区β-地中海贫血基因突变类型与分布频率的探讨[J].国际检验医学杂志, 2013, 34(3): 325-326. DOI:10.3969/j.issn.1673-4130.2013.03.029

Li Y, Huang S Z, Zhong W M. Investigation of β-thalassemia gene mutation types and frequency distribution in Guigang[J]. International Journal of Laboratory Medicine, 2013, 34(3): 325-326. DOI:10.3969/j.issn.1673-4130.2013.03.029

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