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

Pierre A. Zalloua; Elie Aoun; Suzanne Koussa; Wissam S.Z. Asfahani; Ali Taher

doi:10.1081/HEM-120018430

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

Pierre A. Zalloua
, Elie Aoun
, Suzanne Koussa
, Wissam S.Z. Asfahani
, Ali Taher

College of Medicine and Health Sciences

American University of Beirut Medical Center
Chronic Care Center, Hazmieh

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

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.

Original language	British English
Pages (from-to)	1-5
Number of pages	5
Journal	Hemoglobin
Volume	27
Issue number	1
DOIs	https://doi.org/10.1081/HEM-120018430
State	Published - 2003

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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.",

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AU - Taher, Ali

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AB - 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.

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

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