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 (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.