Detection of β and δ globin gene mutations by PCR and direct DNA sequencing in an individual with normal HbA2 β thalassemia

Summary Normal HbA 2 β thalassemia in a Greek individual was shown to be due to co-inheritance of β and δ thalassemias. The genetic defects were characterized by enzymatic amplification of the β and δ globin genes and direct genomic sequencing. Two children with a typical high HbA 2 β thalassemia trait had inherited the β thalassemia allele whilst a third child had low-normal HbA 2 associated with δ+ thalassemia. Segregation patterns confirmed that the δ+/β° thalassemia defects were present in trans * *In genetics having one of the 2 mutant genes of a pseudo allele on each homologous chromosome - Dorland's Medical Dictionary. 25th Edition..