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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

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 per...

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Main Authors: Tan, Mary Anne Jin Ai, Tan, Kim Lian, Omar, Khairul Zaman, Chan, Lee Lee, Wee, Yong Chui, George, Elizabeth
Format: Article
Language:English
Published: Springer 2009
Online Access:http://psasir.upm.edu.my/id/eprint/15263/1/Interaction%20of%20Hb%20South%20Florida.pdf
http://psasir.upm.edu.my/id/eprint/15263/
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spelling my.upm.eprints.152632016-11-30T02:09:18Z http://psasir.upm.edu.my/id/eprint/15263/ 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 Tan, Kim Lian Omar, Khairul Zaman Chan, Lee Lee Wee, Yong Chui George, Elizabeth 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. Springer 2009-09 Article PeerReviewed application/pdf en http://psasir.upm.edu.my/id/eprint/15263/1/Interaction%20of%20Hb%20South%20Florida.pdf 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 10.1007/s00431-008-0877-9
institution Universiti Putra Malaysia
building UPM Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider Universiti Putra Malaysia
content_source UPM Institutional Repository
url_provider http://psasir.upm.edu.my/
language English
description 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.
format Article
author Tan, Mary Anne Jin Ai
Tan, Kim Lian
Omar, Khairul Zaman
Chan, Lee Lee
Wee, Yong Chui
George, Elizabeth
spellingShingle Tan, Mary Anne Jin Ai
Tan, Kim Lian
Omar, Khairul Zaman
Chan, Lee Lee
Wee, Yong Chui
George, Elizabeth
Interaction of Hb South Florida (codon 1; GTG→ATG) and HbE, with β-thalassemia (IVS1-1; G→A): expression of different clinical phenotypes
author_facet Tan, Mary Anne Jin Ai
Tan, Kim Lian
Omar, Khairul Zaman
Chan, Lee Lee
Wee, Yong Chui
George, Elizabeth
author_sort Tan, Mary Anne Jin Ai
title Interaction of Hb South Florida (codon 1; GTG→ATG) and HbE, with β-thalassemia (IVS1-1; G→A): expression of different clinical phenotypes
title_short Interaction of Hb South Florida (codon 1; GTG→ATG) and HbE, with β-thalassemia (IVS1-1; G→A): expression of different clinical phenotypes
title_full Interaction of Hb South Florida (codon 1; GTG→ATG) and HbE, with β-thalassemia (IVS1-1; G→A): expression of different clinical phenotypes
title_fullStr Interaction of Hb South Florida (codon 1; GTG→ATG) and HbE, with β-thalassemia (IVS1-1; G→A): expression of different clinical phenotypes
title_full_unstemmed Interaction of Hb South Florida (codon 1; GTG→ATG) and HbE, with β-thalassemia (IVS1-1; G→A): expression of different clinical phenotypes
title_sort interaction of hb south florida (codon 1; gtg→atg) and hbe, with β-thalassemia (ivs1-1; g→a): expression of different clinical phenotypes
publisher Springer
publishDate 2009
url http://psasir.upm.edu.my/id/eprint/15263/1/Interaction%20of%20Hb%20South%20Florida.pdf
http://psasir.upm.edu.my/id/eprint/15263/
_version_ 1643825881690406912
score 13.211869

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