Tan, J. and Tan, K.L. and Omar, K.Z. and Chan, L.L. and Wee, Y.C. and George, E. (2009) Interaction of Hb South Florida (codon 1; GTG -> ATG) and HbE, with beta-thalassemia (IVS1-1; G -> A): expression of different clinical phenotypes. European Journal of Pediatrics, 168 (9). pp. 1049-1054. ISSN 0340-6199, DOI https://doi.org/10.1007/s00431-008-0877-9.
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Interaction_of_Hb_South_Florida_(codon_1;_GTG→ATG)_and_HbE,_with_β-thalassemia.pdf - Published Version Restricted to Registered users only Download (199kB) | Request a copy |
Abstract
Interactions of different hemoglobin variants with thalassemia alleles can result in various clinical phenotypes. HbE-beta-thalassemia generally manifests with severe anemia where individuals exhibit beta-thalassemia major with regular blood transfusions or beta-thalassemia intermedia with periodic blood transfusions. This study presents a unique Malay family with three beta-globin gene defects-HbE, Hb South Florida, and IVS1-1 (G -> A). HbE activates a cryptic splice site that produces non-functional mRNAs. Hb South Florida is a rare beta-hemoglobin variant, and its interactions with other beta-thalassemia alleles have not been reported. IVS1-1 is a Mediterranean mutation that affects mRNA processing giving rise to beta(o)-thalassemia. Fifteen mutations along the beta-globin gene complex were analyzed using the amplification refractory mutation system. Hb South Florida was identified by direct sequencing using genomic DNA The affected child with HbE/IVS1-1 produced a beta-thalassemia major phenotype. Compound heterozygosity for Hb South Florida/IVS1-1 produced a beta-thalassemia carrier phenotype in the mother.
| Item Type: | Article |
|---|---|
| Funders: | UNSPECIFIED |
| Additional Information: | Tan, Jin-Ai Mary Anne Tan, Kim-Lian Omar, Khairul Zaman Chan, Lee-Lee Wee, Yong-Chui George, Elizabeth |
| Uncontrolled Keywords: | Amplification refractory mutation system . Direct sequencing . Ethnic groups . Structural hemoglobin variants . Thalassemia |
| Subjects: | R Medicine |
| Divisions: | Faculty of Medicine |
| Depositing User: | Ms Haslinda Lahuddin |
| Date Deposited: | 01 Oct 2012 03:45 |
| Last Modified: | 01 Oct 2012 03:45 |
| URI: | http://eprints.um.edu.my/id/eprint/3712 |
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