title: Thalassemia incidentally found by marked erythrocytosis due to an ochre mutation at codon 35 in a Japanese man.
abstract: We present a patient with beta-thalassemia minor diagnosed on the basis of the incidental findings of marked hypochromic and microcytic erythrocytosis. Hemoglobin analysis revealed increased hemoglobin (Hb) A2 levels and decreased beta/alpha synthesis ratio in both the propositus and his mother. Further molecular studies identified a single base substitution of TCA to TAA within codon 35 in heterozygous state, which creates a premature terminator resulting in a defect of effective beta globin synthesis. This is the first report of beta-thalassemia due to a nonsense mutation at codon 35 of beta-thalassemia gene in the Japanese population.
authors.affiliation: Second Department of Internal Medicine, Shiga University of Medical Science.
authors.forename: M
authors.initials: M
authors.lastname: Yasunaga
authors.forename: Y
authors.initials: Y
authors.lastname: Fujiyama
authors.forename: A
authors.initials: A
authors.lastname: Miyagawa
authors.forename: T
authors.initials: T
authors.lastname: Inoue
authors.forename: A
authors.initials: A
authors.lastname: Andoh
authors.forename: K
authors.initials: K
authors.lastname: Hodohara
authors.forename: T
authors.initials: T
authors.lastname: Bamba
authors.forename: T
authors.initials: T
authors.lastname: Inoue
authors.forename: Y
authors.initials: Y
authors.lastname: Yawata
authors.forename: K
authors.initials: K
authors.lastname: Harano
mesh_terms: D000328:Adult; D003062:Codon / Q000235:genetics*; D005914:Globins / Q000096:biosynthesis / Q000235:genetics; D006801:Humans; D007564:Japan; D008297:Male; D017354:Point Mutation; D011086:Polycythemia / Q000175:diagnosis* / Q000235:genetics; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism
chemical_list: D003062:Codon; D005914:Globins