Interaction of Hb South Florida (codon 1; GTG -> ATG) and HbE, with beta-thalassemia (IVS1-1; G -> A): expression of different clinical phenotypes

Tan, J.; Tan, K.L.; Omar, K.Z.; Chan, L.L.; Wee, Y.C.; 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

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    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
    Journal or Publication Title: European Journal of Pediatrics
    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 11:45
    Last Modified: 01 Oct 2012 11:45
    URI: http://eprints.um.edu.my/id/eprint/3712

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