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The codons 8/9 (+ G) mutation found for the first time in the Lebanese population

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The codons 8/9 (+ G) mutation found for the first time in the Lebanese population

Zalloua, Pierre A.; Aoun, Elie; Koussa, Suzanne; Asfahani, Wissam S.Z.; Taher, Ali
URI: http://hdl.handle.net/10725/11115
URL: https://www.tandfonline.com/doi/full/10.1081/HEM-120018430
DOI: https://doi.org/10.1081/HEM-120018430
Date: 2019-07-22
Terms of Use: This item is made available under the terms and conditions applicable to " Article ", as set forth at: http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php

Abstract:

Thalassemia is a common inherited disease in the Mediterranean region. We here report a mutation new to the Lebanese population: the insertion of a G nucleotide at codons 8/9 [(+G) AAG‐TCT (Lys‐Ser)→AAG‐G‐TCT (β0)] of the β‐globin gene in a thalassemic patient with a mild phenotype. We discuss the possible factors that play a role in alleviating the severity of the disease in this case.

Citation:

Zalloua, P. A., Aoun, E., Koussa, S., Asfahani, W. S., & Taher, A. (2003). The codons 8/9 (+ G) mutation found for the first time in the Lebanese population. Hemoglobin, 27(1), 1-5.

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