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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    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
    1. Tan, J.(Department of Molecular Medicine, Faculty of Medicine Building, University of Malaya, 50603 Kuala Lumpur, MALAYSIA)
    2. Tan, K.L.
    3. Omar, K.Z.
    4. Chan, L.L.
    5. Wee, Y.C.
    6. George, E.
    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

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