- 【Updated on May 12, 2025】 Integration of CiNii Dissertations and CiNii Books into CiNii Research
- Trial version of CiNii Research Knowledge Graph Search feature is available on CiNii Labs
- 【Updated on June 30, 2025】Suspension and deletion of data provided by Nikkei BP
- Regarding the recording of “Research Data” and “Evidence Data”
.BETA.0-Thalassemia due to a nonsense mutation at .BETA.90 (GAG.RAR.TAG) in human hemoglobin gene.
-
- NOMURA Yoshinari
- the First Department of Medicine, Wakayama Medical College
-
- NANJO Kishio
- the First Department of Medicine, Wakayama Medical College
-
- MIYAMURA Kei
- the First Department of Medicine, Wakayama Medical College
-
- HARANO Teruo
- Department of Biochemistry, Kawasaki Medical School
-
- HARANO Keiko
- Department of Biochemistry, Kawasaki Medical School
-
- UEDA Satoshi
- Department of Biochemistry, Kawasaki Medical School
Search this article
Description
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.
Journal
-
- Japanese Journal of Medicine
-
Japanese Journal of Medicine 29 (1), 2-6, 1990
The Japanese Society of Internal Medicine