Beta-thalassemia with the IVS-I-1 (G-->T) mutation in a Japanese girl.
We analyzed the hemoglobins of a Japanese girl with beta-thalassemia and those of her immediate family. DNA sequencing of the cloned beta-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.
Okada
T
T
Kochi Medical School, Japan.
Tomoda
T
T
Morita
H
H
Wakiguchi
H
H
Kurashige
T
T
D001483:Base Sequence; D002675:Child, Preschool; D005260:Female; D005914:Globins / Q000235:genetics*; D006801:Humans; D007564:Japan; D008969:Molecular Sequence Data; D017354:Point Mutation; D017086:beta-Thalassemia / Q000235:genetics*
D005914:Globins