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

Abstract 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.