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探讨我国南方地区孕妇β-地中海贫血的筛查标准 [中文引用][英文引用]

Studies on Screening Criteria for β-thalassemia Trait in Pregnancy in Southern China

作者(英文):Xie Xing-mei  Zhou Jian-ying  Liu Na  Li Jian  Li Dong-zhi 
单位(英文):Prenatal Diagnostic Center  Guangzhou Medical College 
分类号:R714.55
出版年·卷·期(页码):2011·3·第2期(4-6)
DOI: 20110202
-----摘要:-------------------------------------------------------------------------------------------

目的 探讨地中海贫血(地贫)的常用筛查指标-平均红细胞体积(MCV80fL是否可用于怀孕妇女。方法 回顾性分析因β-地贫而行产前诊断的449例孕妇的血液学检查资料。结果 449例孕妇中,MCV80fL443例,占98.7%MCV80fL6例,占1.3%6 MCV80fL的孕妇β-地贫基因均为-28AG)突变,占61-28突变孕妇的9.8%。若筛查标准设为 MCH27pg449β-地贫基因携带者孕妇无1例漏诊。结论 如果在孕妇地贫筛查中单用 MCV80fL作为筛选指标,将会漏诊β+-地贫。建议在地贫高发地区采用 MCH 作为孕妇产前筛查的指标。

-----英文摘要:---------------------------------------------------------------------------------------

Objective  To evaluate whether it is effective to use mean corpuscular volume(MCV)<80fL as a screening test in the first step of screening for β-thalassemia trait for pregnant women in southern China. Methods  The data of hematological testing in the first or second trimester of gestation of 449 pregnant women who underwent prenatal diagnosis for β-thalassemia were retrospectively reviewed. Results  In the 449 β-thalassemia carriers, 6 (1.3% ) had a MCV value>80fL, ranging from 80.3 to 83.4fL. All subjects having a normal MCV value carried the same -28 (A>G) mutation, accounting for 9.8% (6/61) of the total number of mother with this mutation. If screening had been based on the mean corpuscular hemoglobin(MCH)<27pg, all 449 pregnant women withβ-thalassemia trait would have been detected.  Conclusion  β+- thalassemia trait would have been missed if only a MCV cut-off value of<80fL had been used for screening. We suggest that all pregnant women with a MCH of<27pg rather than a MCV of<80fL should be investigated further to confirm or exclude a diagnosis of thalassemia trait in southern China.

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中文著录格式: 谢杏梅,周剑英,刘娜,李坚,李东至.探讨我国南方地区孕妇β-地中海贫血的筛查标准.中国产前诊断杂志,2011,3(2):4-6.
英文著录格式: Xie,Xing-mei,,Zhou,Jian-ying,,Liu,Na,,Li,Jian,,Li,Dong-zhi.Studies on Screening Criteria for β-thalassemia Trait in Pregnancy in Southern China.No Title Settings,2011,3(2):4-6.

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