.BETA.0-Thalassemia due to a nonsense mutation at .BETA.90 (GAG.RAR.TAG) in human hemoglobin gene.
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- NOMURA Yoshinari
- the First Department of Medicine, Wakayama Medical College
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- NANJO Kishio
- the First Department of Medicine, Wakayama Medical College
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- MIYAMURA Kei
- the First Department of Medicine, Wakayama Medical College
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- HARANO Teruo
- Department of Biochemistry, Kawasaki Medical School
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- HARANO Keiko
- Department of Biochemistry, Kawasaki Medical School
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- UEDA Satoshi
- Department of Biochemistry, Kawasaki Medical School
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説明
We studied a patient with severe anemia and jaundice who exhibited a high hemoglobin A1 (HbA1) level secondary to an increase in HbF despite normal glucose tolerance. The red blood cells showed anisocytosis, poikilocytosis and polychromasia; target cells, Howell-Jolly bodies, Heints bodies and punctate basophilia were observed. No defect or reduction in activity was observed in 19 red cell enzymes. A family history of similar anemia in the patient's daughter and cousins on the mother's side indicated an involvement of genetic factors. Gene cloning and DNA analysis showed that the condition is a new type of β0-thalassemia caused by a nonsense mutation (GAG→TAG) in codon 90 of the β-globin gene.
収録刊行物
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- Japanese Journal of Medicine
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Japanese Journal of Medicine 29 (1), 2-6, 1990
社団法人 日本内科学会