Thalassemia incidentally found by marked erythrocytosis due to an ochre mutation at codon 35 in a Japanese man.
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.
Yasunaga
M
M
Second Department of Internal Medicine, Shiga University of Medical Science.
Fujiyama
Y
Y
Miyagawa
A
A
Inoue
T
T
Andoh
A
A
Hodohara
K
K
Bamba
T
T
Inoue
T
T
Yawata
Y
Y
Harano
K
K
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
D003062:Codon; D005914:Globins