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Please use this identifier to cite or link to this item: http://repository.li.mahidol.ac.th/dspace/handle/123456789/17382
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dc.contributor.authorP. Winichagoonen_US
dc.contributor.authorS. Fucharoenen_US
dc.contributor.authorP. Wilairaten_US
dc.contributor.authorY. Fukumakien_US
dc.contributor.otherMahidol Universityen_US
dc.date.accessioned2018-07-04T06:56:37Z-
dc.date.available2018-07-04T06:56:37Z-
dc.date.issued1995-12-01en_US
dc.identifier.citationThe Southeast Asian journal of tropical medicine and public health. Vol.26 Suppl 1, (1995), 235-240en_US
dc.identifier.issn01251562en_US
dc.identifier.other2-s2.0-0029448317en_US
dc.identifier.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=0029448317&origin=inwarden_US
dc.identifier.urihttp://repository.li.mahidol.ac.th/dspace/handle/123456789/17382-
dc.description.abstractHemoglobinopathies 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.en_US
dc.rightsMahidol Universityen_US
dc.source.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=0029448317&origin=inwarden_US
dc.subjectMedicineen_US
dc.titleMolecular mechanisms of thalassemia in southeast Asia.en_US
dc.typeArticleen_US
dc.rights.holderSCOPUSen_US
Appears in Collections:Scopus 1991-2000

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