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β‐Thalassemia with the IVS‐l‐1 (G → T) mutation in a Japanese girl
Author(s) -
OKADA TAISUKE,
TOMODA TAKASHI,
MORITA HIDEO,
WAKIGUCHI HIROSHI,
KURASHIGE TAKANOBU
Publication year - 1995
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1995.tb03299.x
Subject(s) - girl , medicine , thalassemia , point mutation , mutation , genetics , gene , biology
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.