A novel δ-globin gene mutation (HBD: c.323G>A) masking the diagnosis of β-thalassemia: a first report from India

An elevated HbA 2 (α2δ2) level (>3.5%) is a well-established diagnostic test for heterozygous β-thalassemia. Mutations in the δ-globin gene can cause decreased expression of HbA 2 , resulting in heterozygous β-thalassemia with normal levels of HbA 2 . In this report, we describe a novel missense mutation in δ-globin (HBD: c.323G>A, Gly > Asp) in an Indian family with heterozygous β-thalassemia with normal HbA 2 levels.