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: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Springer
2009
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| 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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| Summary: | 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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