Publication: Role of alternatively spliced beta E-globin mRNA on clinical severity of beta-thalassemia/hemoglobin E disease.
9
Issued Date
1995-12-01
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ISSN
01251562
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2-s2.0-0029437645
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Mahidol University
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SCOPUS
Bibliographic Citation
The Southeast Asian journal of tropical medicine and public health. Vol.26 Suppl 1, (1995), 241-245
Suggested Citation
P. Winichagoon, S. Fucharoen, P. Wilairat, K. Chihara, Y. Fukumaki Role of alternatively spliced beta E-globin mRNA on clinical severity of beta-thalassemia/hemoglobin E disease.. The Southeast Asian journal of tropical medicine and public health. Vol.26 Suppl 1, (1995), 241-245. Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/17361
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Title
Role of alternatively spliced beta E-globin mRNA on clinical severity of beta-thalassemia/hemoglobin E disease.
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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.