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European Journal of Pediatrics

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01-09-2009 | Original Paper

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

Authors: Jin-Ai Mary Anne Tan, Kim-Lian Tan, Khairul Zaman Omar, Lee-Lee Chan, Yong-Chui Wee, Elizabeth George

Published in: European Journal of Pediatrics | Issue 9/2009

Abstract

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 β^o-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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Title: Interaction of Hb South Florida (codon 1; GTG→ATG) and HbE, with β-thalassemia (IVS1-1; G→A): expression of different clinical phenotypes
Authors: Jin-Ai Mary Anne Tan
Kim-Lian Tan
Khairul Zaman Omar
Lee-Lee Chan
Yong-Chui Wee
Elizabeth George
Publication date: 01-09-2009
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 9/2009
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-008-0877-9

At a glance: The STEP trials

Springer Medicine

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

Abstract

Introduction

Materials and methods

Results and discussion

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Introduction

Materials and methods

Results and discussion

Conclusion

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