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...
| 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 |
| _version_ | 1796968810929979392 |
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| author | Tan, Mary Anne Jin Ai Tan, Kim Lian Omar, Khairul Zaman Chan, Lee Lee Wee, Yong Chui George, Elizabeth |
| 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 |
| collection | UPM |
| 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. |
| first_indexed | 2024-03-06T07:33:49Z |
| format | Article |
| id | upm.eprints-15263 |
| institution | Universiti Putra Malaysia |
| language | English |
| last_indexed | 2024-03-06T07:33:49Z |
| publishDate | 2009 |
| publisher | Springer |
| record_format | dspace |
| spelling | 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 |
| 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 |
| 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_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_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_sort | interaction of hb south florida codon 1 gtg atg and hbe with β thalassemia ivs1 1 g a expression of different clinical phenotypes |
| url | http://psasir.upm.edu.my/id/eprint/15263/1/Interaction%20of%20Hb%20South%20Florida.pdf |
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