β-Thalassemia with the IVS-l-1 (G → T) mutation in a Japanese girl

We analyzed the hemoglobins of a Japanese girl with β-thalassemia and those of her immediate family. DNA sequencing of the cloned β-globin gene from this patient revealed a point mutation at the IVS-I position 1 (G → T). This rare point mutation has been found in Asian Indians, but this is the first reported Japanese case.