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地中海贫血诊断与基因分型

Diagnosis and Genotyping of Thalassemia

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【作者】 刘春利

【Author】 LIU Chun-li(Department of Laboratory,the Second People’s Hospital of Qinzhou City,Guangxi,535000,China)

【机构】 广西壮族自治区钦州市第二人民医院检验科

【摘要】 地中海贫血(THAC)主要分部在我国海南及两广沿海地区。采用红细胞脆性试验、平均红细胞容积(MCV)、平均红细胞血红蛋白(MCH)测定、HbA2电泳测定和基因芯片技术,对THAC做出诊断。重症α地中海贫血可导致死产、死胎,影响孕妇健康;重症β地中海贫血表现为严重溶血性贫血,肝脾肿大,患者未到成年已夭折。地中海贫血杂合子临床症状轻且可无症状,夫妇双方携带,将有1/4生育重症地中海贫血儿的可能,故在地中海贫血高发区开展筛查与诊断非常重要。

【Abstract】 In China,thalassemia(THAC) occurs most frequently in Hainan,and coastal areas of Guandong and Guangxi.Thalassemia can be diagnosed by erythrocyte fragility test,detection of MCV and MCH,HbA2 electrophoresis determination and gene chip technology.The severe α thalassemia can cause the stillbirth and fetal death,and be harmful to health pregnant women.The severe β thalassemia is presented as a severe hemolytic anemia and hepatosplenomegaly,and patients often died before adulthood.The thalassemia heterozygote has slight clinical symptoms or no symptom at all.When couple both carries this type of thalassemia,the possibility of their infant with severe thalassemia is 25%,so it is very important to implement the screening and diagnosis of thalassemia in high incidence the areas.

【关键词】 地中海贫血基因芯片技术筛查
【Key words】 ThalassemiaGene chip technologyScreening
【基金】 广西自然科学基金项目(2010GXNSFA013263)
  • 【文献出处】 职业与健康 ,Occupation and Health , 编辑部邮箱 ,2011年02期
  • 【分类号】R556.9
  • 【被引频次】2
  • 【下载频次】848
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