title: The codons 8/9 (+G) mutation found for the first time in the Lebanese population.
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 (beta0)] of the beta-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.
authors.affiliation: Chronic Care Center, Hazmieh, Lebanon.
authors.forename: Pierre A
authors.initials: PA
authors.lastname: Zalloua
authors.forename: Elie
authors.initials: E
authors.lastname: Aoun
authors.forename: Suzanne
authors.initials: S
authors.lastname: Koussa
authors.forename: Wissam S Z
authors.initials: WS
authors.lastname: Asfahani
authors.forename: Ali
authors.initials: A
authors.lastname: Taher
mesh_terms: D001797:Blood Protein Electrophoresis; D002675:Child, Preschool; D003062:Codon / Q000235:genetics*; D003241:Consanguinity; D005319:Fetal Hemoglobin / Q000032:analysis / Q000096:biosynthesis; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006441:Hemoglobin A / Q000032:analysis; D006443:Hemoglobin A2 / Q000032:analysis; D006801:Humans; D007861:Lebanon / Q000453:epidemiology; D008297:Male; D016254:Mutagenesis, Insertional; D010641:Phenotype; D011401:Promoter Regions, Genetic / Q000235:genetics; D017085:alpha-Thalassemia / Q000150:complications / Q000235:genetics; D017086:beta-Thalassemia / Q000150:complications / Q000453:epidemiology / Q000235:genetics*
chemical_list: D003062:Codon; D005914:Globins; D006441:Hemoglobin A; D006443:Hemoglobin A2; D005319:Fetal Hemoglobin