Interaction of Hb South Florida (codon 1; GTG -> ATG) and HbE, with beta-thalassemia (IVS1-1; G -> A): expression of different clinical phenotypes
Interactions of different hemoglobin variants with thalassemia alleles can result in various clinical phenotypes. HbE-beta-thalassemia generally manifests with severe anemia where individuals exhibit beta-thalassemia major with regular blood transfusions or beta-thalassemia intermedia with periodic...
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| Format: | Article |
| Language: | English |
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2009
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| Online Access: | http://eprints.um.edu.my/3712/1/Interaction_of_Hb_South_Florida_%28codon_1%3B_GTG%E2%86%92ATG%29_and_HbE%2C_with_%CE%B2-thalassemia.pdf |
| _version_ | 1825718844630499328 |
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| author | Tan, J. Tan, K.L. Omar, K.Z. Chan, L.L. Wee, Y.C. George, E. |
| author_facet | Tan, J. Tan, K.L. Omar, K.Z. Chan, L.L. Wee, Y.C. George, E. |
| author_sort | Tan, J. |
| collection | UM |
| description | Interactions of different hemoglobin variants with thalassemia alleles can result in various clinical phenotypes. HbE-beta-thalassemia generally manifests with severe anemia where individuals exhibit beta-thalassemia major with regular blood transfusions or beta-thalassemia intermedia with periodic blood transfusions. This study presents a unique Malay family with three beta-globin gene defects-HbE, Hb South Florida, and IVS1-1 (G -> A). HbE activates a cryptic splice site that produces non-functional mRNAs. Hb South Florida is a rare beta-hemoglobin variant, and its interactions with other beta-thalassemia alleles have not been reported. IVS1-1 is a Mediterranean mutation that affects mRNA processing giving rise to beta(o)-thalassemia. Fifteen mutations along the beta-globin gene complex were analyzed using the amplification refractory mutation system. Hb South Florida was identified by direct sequencing using genomic DNA The affected child with HbE/IVS1-1 produced a beta-thalassemia major phenotype. Compound heterozygosity for Hb South Florida/IVS1-1 produced a beta-thalassemia carrier phenotype in the mother. |
| first_indexed | 2024-03-06T05:10:33Z |
| format | Article |
| id | um.eprints-3712 |
| institution | Universiti Malaya |
| language | English |
| last_indexed | 2024-03-06T05:10:33Z |
| publishDate | 2009 |
| record_format | dspace |
| spelling | um.eprints-37122012-10-01T03:45:37Z http://eprints.um.edu.my/3712/ Interaction of Hb South Florida (codon 1; GTG -> ATG) and HbE, with beta-thalassemia (IVS1-1; G -> A): expression of different clinical phenotypes Tan, J. Tan, K.L. Omar, K.Z. Chan, L.L. Wee, Y.C. George, E. R Medicine Interactions of different hemoglobin variants with thalassemia alleles can result in various clinical phenotypes. HbE-beta-thalassemia generally manifests with severe anemia where individuals exhibit beta-thalassemia major with regular blood transfusions or beta-thalassemia intermedia with periodic blood transfusions. This study presents a unique Malay family with three beta-globin gene defects-HbE, Hb South Florida, and IVS1-1 (G -> A). HbE activates a cryptic splice site that produces non-functional mRNAs. Hb South Florida is a rare beta-hemoglobin variant, and its interactions with other beta-thalassemia alleles have not been reported. IVS1-1 is a Mediterranean mutation that affects mRNA processing giving rise to beta(o)-thalassemia. Fifteen mutations along the beta-globin gene complex were analyzed using the amplification refractory mutation system. Hb South Florida was identified by direct sequencing using genomic DNA The affected child with HbE/IVS1-1 produced a beta-thalassemia major phenotype. Compound heterozygosity for Hb South Florida/IVS1-1 produced a beta-thalassemia carrier phenotype in the mother. 2009 Article PeerReviewed application/pdf en http://eprints.um.edu.my/3712/1/Interaction_of_Hb_South_Florida_%28codon_1%3B_GTG%E2%86%92ATG%29_and_HbE%2C_with_%CE%B2-thalassemia.pdf Tan, J. and Tan, K.L. and Omar, K.Z. and Chan, L.L. and Wee, Y.C. and George, E. (2009) Interaction of Hb South Florida (codon 1; GTG -> ATG) and HbE, with beta-thalassemia (IVS1-1; G -> A): expression of different clinical phenotypes. European Journal of Pediatrics, 168 (9). pp. 1049-1054. ISSN 0340-6199, DOI https://doi.org/10.1007/s00431-008-0877-9 <https://doi.org/10.1007/s00431-008-0877-9>. 10.1007/s00431-008-0877-9 |
| spellingShingle | R Medicine Tan, J. Tan, K.L. Omar, K.Z. Chan, L.L. Wee, Y.C. George, E. Interaction of Hb South Florida (codon 1; GTG -> ATG) and HbE, with beta-thalassemia (IVS1-1; G -> A): expression of different clinical phenotypes |
| title | Interaction of Hb South Florida (codon 1; GTG -> ATG) and HbE, with beta-thalassemia (IVS1-1; G -> A): expression of different clinical phenotypes |
| title_full | Interaction of Hb South Florida (codon 1; GTG -> ATG) and HbE, with beta-thalassemia (IVS1-1; G -> A): expression of different clinical phenotypes |
| title_fullStr | Interaction of Hb South Florida (codon 1; GTG -> ATG) and HbE, with beta-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 beta-thalassemia (IVS1-1; G -> A): expression of different clinical phenotypes |
| title_short | Interaction of Hb South Florida (codon 1; GTG -> ATG) and HbE, with beta-thalassemia (IVS1-1; G -> A): expression of different clinical phenotypes |
| title_sort | interaction of hb south florida codon 1 gtg atg and hbe with beta thalassemia ivs1 1 g a expression of different clinical phenotypes |
| topic | R Medicine |
| url | http://eprints.um.edu.my/3712/1/Interaction_of_Hb_South_Florida_%28codon_1%3B_GTG%E2%86%92ATG%29_and_HbE%2C_with_%CE%B2-thalassemia.pdf |
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