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DC Field | Value | Language |
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dc.contributor.author | Marwan, M. M. | - |
dc.contributor.author | Scerri, Christian A. | - |
dc.contributor.author | Zarroag, S. O. | - |
dc.contributor.author | Kyrri, Andreanni R. | - |
dc.contributor.author | Kalogirou, Eleni | - |
dc.contributor.author | Kleanthous, Marina | - |
dc.contributor.author | Ioannou, Panayiotis A. | - |
dc.contributor.author | Angastiniotis, Michael A. | - |
dc.contributor.author | Felice, Alex | - |
dc.contributor.author | Cao, Antonio | - |
dc.date.accessioned | 2018-03-16T10:43:31Z | - |
dc.date.available | 2018-03-16T10:43:31Z | - |
dc.date.issued | 1999 | - |
dc.identifier.citation | Marwan, M. M., Scerri, C. A., Zarroag, S. O., Cao, A., Kyrri, A., Kalogirou, E.,...Felice, A. E. (1999). Comparative in vivo expression of β+-thalassemia alleles. Hemoglobin, 23(3), 221-229. | en_GB |
dc.identifier.uri | https://www.um.edu.mt/library/oar//handle/123456789/28010 | - |
dc.description.abstract | Double heterozygotes who inherit one abnormal though stable β-globin variant in association with a molecularly identified β+-thalassaemia alleleprovide unique opportunities to quantify the in vivo expression of particular β+-thalassemia alleles. The globin products of the two alleles can be separated, quantified and the output of the β+-thalassaemia allele expressed as the MCH-β(A) in pg β(A)-globin/β+-thalassemia allele/RBC = 0.5 MCH x Hb A%. In this communication we provide new quantitative data on the expression of five mutations as follows: the β+-87 (C→G) = 3.8 pg β(A)-globin/β+-thalassemia allele/RBC (n = 1); the β+ IVS-I-1 (G→A) = 0.2 pg β(A)-globin/β+-thalassemia allele/RBC (n = 1); the β+ IVS-I-6 (T→C) = 2.9 pg β(A)-globin/β+-thalassemia allele/RBC (n = 7); the β+ IVS-I-110 (G→A) = 1.1 pg β(A)-globin/β+-thalassemia allele/RBC (n = 13), and the β+IVS-II-745 (C→G) = 1.74 pg β(A)-globin/β+-thalassemia allele/RBC (n = 2). The values obtained are compared with those of other β+-thalassemia alleles from the literature. It can be seen that the MCH- β(A) value may be a correct index of thalassemia severity useful for the correlation of genotype with phenotype, and for understanding the effects of mutations in β-globin genes on pathophysiologically meaningful β-globin gene expression. | en_GB |
dc.description.sponsorship | This research was supported by institutional funds of the collaborating centers and by designated funds of the Commission of the European Union through the Avicenne Programme (contract No. AVI-CT92-0002). Parts of this work are submitted by M.M. Marwan and A. Kyrri in partial fulfilment of the requirements for the Doctor of Philosophy degrees of the University of Malta, Msida, Malta, and the University of London, London, England. | en_GB |
dc.language.iso | en | en_GB |
dc.publisher | Taylor & Francis | en_GB |
dc.rights | info:eu-repo/semantics/restrictedAccess | en_GB |
dc.subject | Gene expression | en_GB |
dc.subject | Beta-Thalassemia | en_GB |
dc.title | Comparative in vivo expression of β+-thalassemia alleles | en_GB |
dc.type | article | en_GB |
dc.rights.holder | The copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder. | en_GB |
dc.description.reviewed | peer-reviewed | en_GB |
dc.identifier.doi | 10.3109/03630269909005702 | - |
dc.publication.title | Hemoglobin | en_GB |
Appears in Collections: | Scholarly Works - FacM&SPB |
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Comparative_in_vivo_expression_of_β+-thalassemia_alleles_1999.pdf Restricted Access | 468.02 kB | Adobe PDF | View/Open Request a copy |
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