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桂北地区166例HbH病患儿血液学参数和基因谱分析 被引量:6

Hematologic parameters and genotype analysis in 166 children with HbH disease in the North Guangxi region
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摘要 目的研究桂北地区HbH病患儿的基因谱特点及不同基因型HbH病的血液学参数特点。方法根据临床表现、血细胞学检测、血红蛋白电泳确诊HbH病患儿166例,均来自桂北地区。Multi-PCR和PCR-反向斑点杂交确定基因型,对于经常规基因检测不能确诊的基因突变,采用直接DNA测序法。结果 166例确诊为HbH病的患儿中,共检出8种基因型,其中--SEA/-α3.782例,--SEA/-α4.240例,--SEA/αCSα38例,--SEA/αQSα1例,--SEA/αWSα1例,--SEA/αCD43/44(-C)α1例,--SEA/-α3.7复合CD17(A→T)1例,--SEA/-α4.2复合CD41-42(-TTCT)1例,另有1例为--SEA与未知基因突变的双重杂合子。实际可分析血液学参数的HbH病患儿有134例,其中2例Hb在正常范围,36例轻度贫血,90例中度贫血,6例--SEA/αCSα因合并感染而呈重度贫血;69例--SEA/-α3.7患儿Hb为62~120 g/L,31例--SEA/-α4.2患儿Hb为69~127 g/L,34例--SEA/αCSα患儿Hb为34~110 g/L。非缺失型HbH病组(基因型--SEA/αCSα)Hb低于缺失型HbH病组(基因型--SEA/-α3.7和--SEA/-α4.2)(P<0.05),MCV含量高于缺失型HbH病组(P<0.05)。结论桂北地区HbH病患儿基因谱丰富,以缺失型HbH病为主,并有明显的遗传异质性;非缺失型HbH病患儿的贫血程度较缺失型HbH病组重,但MCV值较缺失型HbH病组高。 Objective To study the characteristics of genotype spectrum and hematologic parameters in children with HbH disease in the North Guangxi region. Methods HbH disease was identified by clinical manifestations, routine blood tests and hemoglobin electrophoresis in 166 children who came form the North Guangxi region. Genotypes were determined by Muhi-PCR combined with PCR reverse dot blot. DNA sequencing was used when the genotype could not be identified by regular methods. Results Of the 166 children with HbH disease, 8 genotypes were identified: --SEA/α3.7 (82 cases), --sES/α4.2 (40 cases) , --SEA/orcs (X ( 38 cases) , --SEA/αQS (X ( 1 case) , --SEA/αWS α ( 1 case) , -SEA// CD43/44(-C)α (1 case),--SEA/α 3.7 plus CD17 (A-T) (1 case)and--SEA/-α4.2 plus CD41-42(-TTCT) (1 case). One case was confirmed as the heterozygote of __SEA and an unknown mutation. In the 134 cases with complete medical data, 2 had normal hemoglobin levels, 36 manifested mild anemia, 90 manifested moderate anemia, and 6 (genotype: --SEA/αCSα ) showed severe anemia because of the coexistence of infection. Children with the genotype of --SEA//α3.7 (69 ca,α ) , --SEA/-α4.2 (31 cases) and --SEA/αcsα (34 cases) had hemoglobin levels of 62-120, 69-127 and 34-110 g/L respectively. The hemoglobin level in the --SEA/αCS(x group was significantly lower than in the deletional HbH disease group (genotypes: -SEA/-α3.7 and --SEA/-α4.2 ) (p 〈 0.05). In contrast, MCV levels in the --SEA/αCSα group were significantly higher than in the deletional HbH disease group ( P 〈 0.05 ). Conclusions The genotype spectrum of HbH disease is diverse in the North Guangxi region. Deletional genotype is prevalent. The disease is heterogeneous. The children with --SEA/αCSα HbH disease have severer anemia and higher MCV levels than those with deletional HbH disease.
出处 《中国当代儿科杂志》 CAS CSCD 北大核心 2012年第4期267-270,共4页 Chinese Journal of Contemporary Pediatrics
关键词 HBH病 遗传异质性 基因型 儿童 HbH disease Heterogeneity Genotype Child
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  • 1周玉球,肖奇志,黄丽娟,肖鸽飞,李文典,朱兰芳,陈紫霞,张玉梅.HbH病患儿临床表现与基因型相关性的研究[J].中华儿科杂志,2004,42(9):693-696. 被引量:25
  • 2朱春江,丁晖,劳一平,彭德珍,秦辛玲,李政,赵芹,郑明慈.桂林市小细胞低色素红细胞症人群病因分析[J].实用儿科临床杂志,2009,24(15):1148-1150. 被引量:6
  • 3朱春江,石青峰,丁晖,郑海清,郑明慈,欧维琳.自制珠蛋白生成障碍性贫血基因诊断阳性质控品用于室内质控的研究[J].实用儿科临床杂志,2010,25(21):1659-1661. 被引量:4
  • 4ZhuC,YuW,XieJ,Chen L Ding H Shang X. Hemoglobin H disease due to a de novo mutation at the d2-globin gene and an inherited common 2-thalassemia deletion found in a Chinese boy[J].Blood Cells Molecules and Diseases,2010,(03):223-226.
  • 5朱春江,欧维琳,丁晖,赵芹,秦辛玲,李雄,郑明慈.不同铁状态对血红蛋白A_2的影响[J].实用儿科临床杂志,2010,25(15):1148-1149. 被引量:7
  • 6张之南;沈悌.血液病诊断及疗效标准[M]北京:北京科学技术出版社,200729-33.
  • 7沈晓明;王卫平.儿科学[M]北京:人民卫生出版社,2008349-353.
  • 8徐湘民.地中海贫血预防控制操作指南[M]北京:人民军医出版社,201113-25.
  • 9Laosombat V,Viprakasit V,Chotsampancharoen T,Wongchanchailert M Khodchawan S Chinchang W. Clinical features and molecular analysis in Thai patients with HbH disease[J].Annals of Hematology,2009,(12):1185-1192.doi:10.1007/s00277-009-0743-5.
  • 10Paglietti ME,Sollaino MC,Loi D,Sarra F,Zaccheddu E,Galanello R. Two atypical forms of HbH disease in Sardinia[J].Haematologica,2011,(11):1733-1734.

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同被引文献38

  • 1周玉球,肖奇志,黄丽娟,肖鸽飞,李文典,朱兰芳,陈紫霞,张玉梅.HbH病患儿临床表现与基因型相关性的研究[J].中华儿科杂志,2004,42(9):693-696. 被引量:25
  • 2赵永忠,徐湘民,徐钤.非缺失型α地中海贫血的分子基础[J].中华医学遗传学杂志,1996,13(5):292-295. 被引量:26
  • 3周艳洁,阮丽明,何桂琼,何家全,梁箫.全自动琼脂糖凝胶电泳检测地中海贫血7500例结果分析[J].中国计划生育学杂志,2007,15(6):355-357. 被引量:20
  • 4Xiong F, Sun M, Zhang X, et al. Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China. Clin Genet, 2010, 78: 139-148.
  • 5Yin XL, Wu ZK, He YY, et al. Treatment and complications of thalassemia major in Guangxi, Southern China. Pediatr Blood Cancer, 2011,57 : 1174-1178.
  • 6Yin XL, Zhang XH, Zhou TH, et al. Hemoglobin H Disease in Guangxi Province, Southern China: Clinical Review of 357 Patients.Acta Haematol, 2010, 124: 86-91.
  • 7Pan HF, Long GF, Li Q, et al. Current status of thalassemia in minority populations in Guangxi, China. Clin Genet, 2007, 71: 419-426.
  • 8Hoffman R, Benz EJ Jr, Shattil S J, et al. Hematology: bas- ic principles and practice [ M] . 3rd ed. Singapore: Harcourt Asia Ptc. LTD, 2000: 485-510.
  • 9Xiong F, Sun M, Zhang X, et al. Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autono- mous Region of southern China [J]. Clin Genet, 2010, 78 (2) : 139-148.
  • 10Goossens M, Lee KY, Liebhaber SA, et al. Globin structur- al mutant alpha 125Leu leads to Pro is a novel cause of alpha- thalassaemia [J]. Nature, 1982, 296 (5860): 864-865.

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