1. Interaction of Hb South Florida (codon 1; GTG-->ATG) and HbE, with beta-thalassemia (IVS1-1; G-->A): expression of different clinical phenotypes.
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Tan, Jin-Ai Mary Anne, Tan, Kim-Lian, Omar, Khairul Zaman, Chan, Lee-Lee, Wee, Yong-Chui, and George, Elizabeth
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HEMOGLOBINS , *THALASSEMIA in children , *ANEMIA , *GLOBIN genes , *DNA , *ALLELES , *BLOOD transfusion , *COMPARATIVE studies , *DNA probes , *DOCUMENTATION , *GENE expression , *GENES , *GENETICS , *RESEARCH methodology , *MEDICAL cooperation , *GENETIC mutation , *POLYMERASE chain reaction , *RESEARCH , *RNA , *SPLEEN diseases , *PHENOTYPES , *EVALUATION research , *BETA-Thalassemia , *HEPATOMEGALY , *SEQUENCE analysis , *GENOTYPES , *DISEASE complications , *THERAPEUTICS - Abstract
Introduction: 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).Materials and Methods: 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.Results and Discussion: 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.Conclusion: 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. [ABSTRACT FROM AUTHOR]- Published
- 2009
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