Publication: Association of Xmn i polymorphism and hemoglobin e haplotypes on postnatal gamma globin gene expression in homozygous hemoglobin e
Issued Date
2012-10-17
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ISSN
16879112
16879104
16879104
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2-s2.0-84867370339
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Mahidol University
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SCOPUS
Bibliographic Citation
Advances in Hematology. Vol.2012, (2012)
Suggested Citation
Supachai Ekwattanakit, Yuwarat Monteerarat, Suchada Riolueang, Kalaya Tachavanich, Vip Viprakasit Association of Xmn i polymorphism and hemoglobin e haplotypes on postnatal gamma globin gene expression in homozygous hemoglobin e. Advances in Hematology. Vol.2012, (2012). doi:10.1155/2012/528075 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/14587
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Title
Association of Xmn i polymorphism and hemoglobin e haplotypes on postnatal gamma globin gene expression in homozygous hemoglobin e
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Abstract
Background and Objectives. To explore the role of cis-regulatory sequences within the β globin gene cluster at chromosome 11 on human γ globin gene expression related to Hb E allele, we analyze baseline hematological data and Hb F values together with β globin haplotypes in homozygous Hb E. Patients and Methods. 80 individuals with molecularly confirmed homozygous Hb E were analyzed for the β globin haplotypes and Xmn I polymorphism using PCR-RFLPs. 74 individuals with complete laboratory data were further studied for association analyses. Results. Eight different β globin haplotypes were found linked to Hb E alleles; three major haplotypes were (a) (III), (b) (V), and (c) (IV) accounting for 94 of Hb E chromosomes. A new haplotype (Th-1) was identified and most likely converted from the major ones. The majority of individuals had Hb F 5; only 10.8 of homozygous Hb E had high Hb F (average 10.5, range 5.814.3). No association was found on a specific haplotype or Xmn I in these individuals with high Hb F, measured by alkaline denaturation. Conclusion. The cis-regulation of γ globin gene expression might not be apparent under a milder condition with lesser globin imbalance such as homozygous Hb E. © 2012 Supachai Ekwattanakit et al.