Hb Lynwood [α107(G14) (–T) (α2) HBA2:c.323delT)] in Conjunction with the α^3.7 Deletion Produces a Moderately Severe α-Thalassemia Phenotype

Abstract

We describe a novel frameshift mutation associated with an α-thalassemia (α-thal) phenotype in a patient of Sudanese origin investigated for persistent microcytosis. In addition to the α^3.7 deletion, a novel mutation on the α2 gene was detected: HBA2:c.323delT. This mutation causes a frameshift at codon 107 of the α2 gene. The result is a disturbed amino acid sequence for the following 24 amino acids, and a premature termination codon at position 132.

• α-Globin
• Thalassemia
• Codon 107
• HBA2:c.323delT