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Please use this identifier to cite or link to this item: http://repository.li.mahidol.ac.th/dspace/handle/123456789/17361
Title: Role of alternatively spliced beta E-globin mRNA on clinical severity of beta-thalassemia/hemoglobin E disease.
Authors: P. Winichagoon
S. Fucharoen
P. Wilairat
K. Chihara
Y. Fukumaki
Mahidol University
Keywords: Medicine
Issue Date: 1-Dec-1995
Citation: The Southeast Asian journal of tropical medicine and public health. Vol.26 Suppl 1, (1995), 241-245
Abstract: In spite of seemingly identical genotypes, severity of beta-thalassemia/hemoglobin (Hb) E patients can vary greatly. Some may have a severe clinical disorder approaching that seen in homozygous beta-thalassemia. Since mutation in codon 26 of the beta E-globin gene can lead to an alternative splicing, Hb E acts like a mild beta(+)-thalassemia. Variation in the amount of beta E-globin mRNA may also govern the difference in severity of anemia in beta-thalassemia/Hb E patients who otherwise have the same genetic determinants. We have determined the percentage of the alternatively spliced beta E-globin mRNA by the RT-PCR technique in 14 patients and found that the amount of abnormal spliced beta E-globin mRNA in those patients with severe symptoms ranged between 2.9 to 6.1%, whereas those with milder symptoms had the values which ranged between 1.6 to 2.6%. The extent of beta E-globin mRNA cryptic splicing was better associated with clinical severity of the patients than did the patterns of the Xmn I polymorphism at position -158 of the G gamma-globin gene or levels of Hb F.
URI: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=0029437645&origin=inward
http://repository.li.mahidol.ac.th/dspace/handle/123456789/17361
ISSN: 01251562
Appears in Collections:Scopus 1991-2000

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