江西地区育龄血红蛋白H患者的基因型与表型分析及产前诊断  

Analysis on genotypes and phenotypes of HbH disease and prenatal diagnosis for child-bearing adults in Jiangxi province

作　　者：罗海艳 陆清[1] 谢康[1] 邹永毅 黄婷 刘艳秋[1] LUO Haiyan;LU Qing;XIE Kang;ZOU Yongyi;HUANG Ting;LIU Yanqiu(Department of Prenatal Diagnostic Center,Jiangxi Maternal and Child Health Hospital,Nanchang 330006,China)

机构地区：[1]江西省妇幼保健院产前诊断中心,南昌330006

出　　处：《实用医学杂志》2021年第13期1750-1754,共5页The Journal of Practical Medicine

基　　金：江西省卫生计生委科技计划(编号:20185387)。

摘　　要：目的探讨江西地区育龄血红蛋白H(HbH)患者的基因型及血液学特点,为遗传咨询与产前诊断提供指导。方法对就诊于江西省妇幼保健院的9 883例育龄受检者行血常规、血红蛋白电泳及地贫基因检测,对检出的HbH患者进行基因型与血液学表型分析,对符合产前诊断指征的5个HbH患者家系于合适孕周行地贫产前诊断。地贫基因检测使用Gap-PCR、Dot-RDB及Sanger测序技术。结果 9 883例受检者中共检出34例HbH患者,检出率为0.34%(34/9 883),其中W-3.7α/--SEA 19例(57.58%),-4.2α/--SEA 9例(27.27%),αSα/--SEA与αCSα/--SEA各1例,国内首次报道的α(CD61(AAG>TAG))α/--SEA 1例,HbH合并β-地贫3例(8.82%);34例HbH患者均表现出小细胞低色素血液学特点,1例HbH-WS患者Hb正常,其余33例HbH患者由个体差异呈轻度或中度贫血;31例单纯性HbH患者HbA2值降低,3例合并β-地贫HbH患者HbA2值升高,仅30例HbH患者经血红蛋白电泳出现HbH带,19例患者经血红蛋白电泳出现Hb Bart′s带;地贫产前诊断结果显示1例胎儿为Hb Bart′s水肿胎,1例为重型β-地贫,1例为3.7缺失型HbH,2例分别为α-地贫和β-地贫携带者。结论江西地区育龄HbH患者基因型以缺失型HbH为主,以-3.7α/--SEA最为常见,HbH患者多为轻到中度小细胞低色素贫血。对有生育中、重型地贫患儿风险的HbH患者,产前诊断是有效降低出生缺陷的重要手段。Objective To investigate the genotypes and hematological manifestions of HbH patients among child-bearing adults in Jiangxi province,and to provide guidence for prenatal diagnosis and genetic counseling.Methods Routine blood test,hemoglobin electrophoresis,and thalassemia genetic testing were performed on 9883 child-bearing adults admitted to Jiangxi Maternal and Child Health Hospital.Information of genotypes and hematological parameters of these HbH patients was collected and analyzed,and 5 HbH families in need of thalassemia prenatal diagnosis received further detection at the appropriate gestational ages.Thalassemia genetic testing was performed by Gap-PCR,Dot-RDB and Sanger sequencing,respectively.Results Thirty-four cases with HbH disease(0.34%)were detected among 9883 subjects,with nineteen cases as-3.7α/-SEA(57.58%),nine cases as-4.2α/-SEA(27.27%),one case asαWSα/-SEA,one case asαCSα/-SEA,one case as aCD61(AAG>TAG)α/--SEA,and three cases as compoundβ-thalassemia and deletional HbH.Routine blood test revealed that all 34 cases showed microcytic hypochromic hematological features.The HbH-WS case showed normal hemoglobin(Hb),while the other 33 cases with HbH disease demonstrated mild or moderate anemia.Hemoglobin electrophoresis analysis revealed the decreased HbA2 level in 31 patients with HbH disease and the increased HbA2 level in 3 patients with compound HbH disease andβ-thalassemia.A total of 30 cases with HbH disease showed the presence of HbH and 19 cases of Hb Bart’s via hemoglobin separation.Conclusion Deletional HbH disease is more common than the nondeletional among child-bearing adults in Jiangxi Province,with-3.7α/--SEA as the most prevalent genotype.The clinical manifestions of HbH disease vary with individuals,most of which are mild or moderate microcytic hypochromic anemia.Genetic testing is nessesary for the diagnosis of HbH patients and prenatal diagnosis is an effective method for these HbH patients at risk of offspring birth with clinically affected thalassemia.

关 键 词：地中海贫血 HBH病 江西地区 产前诊断 

分 类 号：R715.5[医药卫生—妇产科学]