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Sickle Cell Anemia Identified in a Multiple-Transfused Patient through Analysis of mRNA with an RT-PCR-Based Technique

 

作者: N.S. Smetanina,   L.H. Gu,   J.Ye. Leonova,   T.H.J Huisman,  

 

期刊: Acta Haematologica  （Karger Available online 1995）
卷期: Volume 93, issue 2-4  

页码: 105-107

 

ISSN:0001-5792

 

年代: 1995

 

DOI:10.1159/000204121

 

出版商: S. Karger AG

 

关键词: mRNA;RT-PCR;Hemoglobinopathies;Sickle cell anemia

 

数据来源: Karger

 

摘要:

We report the identification of an Hb S homozygosity in a 29-year-old multiple-transfused patient with severe kidney disease using a new reverse-transcription polymerase chain reaction (RT-PCR) technique with mRNA as starting template. The procedure requires considerably less time than sequencing of genomic DNA and is recommended for use in the diagnosis of Hb S and other hemoglobinopathies.

 

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