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.
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http://dx.doi.org/10.1081/hem-120018430 | DOI Listing |
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