Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency
| Autor: | H Iyori, J Ueyama, Hiroshi Fujii, Shiro Miwa, Akira Hirono, Hitoshi Kanno, H Chiba, I Sekine |
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| Rok vydání: | 1996 |
| Předmět: |
chemistry.chemical_classification
Hemolytic anemia medicine.medical_specialty biology Immunology Glutathione Cell Biology Hematology medicine.disease Glutathione synthetase deficiency Biochemistry Enzyme assay chemistry.chemical_compound Red blood cell Hereditary nonspherocytic hemolytic anemia Enzyme medicine.anatomical_structure Endocrinology chemistry Internal medicine Glutathione deficiency biology.protein medicine |
| Zdroj: | Blood. 87:2071-2074 |
| ISSN: | 1528-0020 0006-4971 |
| DOI: | 10.1182/blood.v87.5.2071.bloodjournal8752071 |
| Popis: | Three unrelated Japanese patients with chronic nonspherocytic hemolytic anemia wer found to have marked deficiency of red blood cell (RBC) reduced glutathoine (GSH) (4.4%, 13.1%, and 6.9% of normal, respectively). A panel of RBC enzyme assays showed that one patient had decreased glutathione synthetase activity and the other two were moderately deficient in gamma-glutamylcystine synthetase. Some family members of each patient showed mild deficiency of the respective enzymes. RBCs of these patients also showed a decreased level of glutathione-S-transferase as in previously described GSH-deficient cases. Hemolytic anemia was their only manifestation, and neither 5- oxoprolinemia nor 5-oxoprolinuria, which are usually associated with to generalized type of glutathione synthetase deficiency, was noted in our patients. |
| Databáze: | OpenAIRE |
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