Publication: Molecular mechanisms of thalassemia in southeast Asia.
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Issued Date
1995-12-01
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ISSN
01251562
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2-s2.0-0029448317
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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), 235-240
Suggested Citation
P. Winichagoon, S. Fucharoen, P. Wilairat, Y. Fukumaki Molecular mechanisms of thalassemia in southeast Asia.. The Southeast Asian journal of tropical medicine and public health. Vol.26 Suppl 1, (1995), 235-240. Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/17382
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Title
Molecular mechanisms of thalassemia in southeast Asia.
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Abstract
Hemoglobinopathies are the most common genetic disorders in Southeast Asia. alpha-Thalassemia is most often due to a alpha-globin gene deletion. Hb Constant Spring (CS) occurs from the mutation at the termination codon of the alpha-globin gene resulting in an elongated polypeptide; alpha(CS)-globin mRNA is also unstable and only small amounts of Hb CS are produced. Thus Hb CS has an alpha-thalassemia 2-like effect. beta-Thalassemia results from a variety of molecular mechanisms, most of which are single base substitutions or deletions or insertions of one to four nucleotides. Hemoglobin E occurs from a Glu --> Lys substitution at position 26 of the beta-globin chain. The abnormal gene also results in reduced amounts of beta E-mRNA and hence of beta E-globin chains. Therefore, Hb E has a mild beta + thalassemia phenotype. Homozygous beta-thalassemia and beta-thalassemia/Hb E are the major beta-thalassemic syndromes in Southeast Asia. In spite of seemingly identical genotypes, severity of beta-thalassemia/Hb E patients can vary greatly. Some may have a severe clinical disorder approaching that seen in homozygous beta-thalassemia. A number of genetic factors have been shown to determine the differences in severity of anemia in beta-thalassemia/Hb E, including co-inheritance of alpha-thalassemia determinants and co-inheritance of other determinants which elevate Hb F expression. A correlation between the extent of beta E-globin mRNA cryptic splicing and the severity of anemia in beta(zero)-thalassemia/Hb E patients has been observed. Complete characterization of mutations causing hemoglobinopathies will help to bolster the establishment of prenatal diagnosis of these genetic disorders in the region.