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


Tan, Mary Anne Jin Ai and Tan, Kim Lian and Omar, Khairul Zaman and Chan, Lee Lee and Wee, Yong Chui and George, Elizabeth (2009) Interaction of Hb South Florida (codon 1; GTG→ATG) and HbE, with β-thalassemia (IVS1-1; G→A): expression of different clinical phenotypes. European Journal of Pediatrics, 168 (9). pp. 1049-1054. ISSN 0340-6199; ESSN: 1432-1076


Introduction: Interactions of different hemoglobin variants with thalassemia alleles can result in various clinical phenotypes. HbE-β-thalassemia generally manifests with severe anemia where individuals exhibit β-thalassemia major with regular blood transfusions or β-thalassemia intermedia with periodic blood transfusions. This study presents a unique Malay family with three β-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 β-hemoglobin variant, and its interactions with other β-thalassemia alleles have not been reported. IVS1-1 is a Mediterranean mutation that affects mRNA processing giving rise to βo-thalassemia. Results and discussion: Fifteen mutations along the β-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 β-thalassemia major phenotype. Compound heterozygosity for Hb South Florida/IVS1-1 produced a β-thalassemia carrier phenotype in the mother.

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Additional Metadata

Item Type: Article
Divisions: Faculty of Medicine and Health Science
DOI Number: https://doi.org/10.1007/s00431-008-0877-9
Publisher: Springer
Keywords: Amplification refractory mutation system; Direct sequencing; Ethnic groups; Structural hemoglobin variants; Thalassemia
Depositing User: Nurul Ainie Mokhtar
Date Deposited: 31 Jul 2015 14:05
Last Modified: 30 Nov 2016 02:09
Altmetrics: http://www.altmetric.com/details.php?domain=psasir.upm.edu.my&doi=10.1007/s00431-008-0877-9
URI: http://psasir.upm.edu.my/id/eprint/15263
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