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Title: | Comparative in vivo expression of β+-thalassemia alleles |
Authors: | Marwan, M. M. Scerri, Christian A. Zarroag, S. O. Kyrri, Andreanni R. Kalogirou, Eleni Kleanthous, Marina Ioannou, Panayiotis A. Angastiniotis, Michael A. Felice, Alex Cao, Antonio |
Keywords: | Gene expression Beta-Thalassemia |
Issue Date: | 1999 |
Publisher: | Taylor & Francis |
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. |
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. |
URI: | https://www.um.edu.mt/library/oar//handle/123456789/28010 |
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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