2001 Fiscal Year Final Research Report Summary
Diagnosis and molecular analysis of red cell enzyme anomalies and analysis of red cell deformabilities
| Project/Area Number |
12671009
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Hematology
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| Research Institution | Tokyo Women 's Medical University |
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Principal Investigator |
HISAICHI |Fujii Tokyo Women 's Medical University, Department of Transfusion Medicine, Professor, 医学部, 助教授 (70107762)
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| Co-Investigator(Kenkyū-buntansha) |
HITOSHI Kanno Tokyo Women's Medical University, Department of Transfusion Medicine,. Associate Professor, 医学部, 助教授 (70221207)
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| Project Period (FY) |
2000 – 2001
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| Keywords | hereditary non-spherocytic hemolytic anemia / erythroenzymopathy / glucose-6-phosphate dehydrogenase deficiency / pyruvate kinase deficiency / red cell deformability |
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| Research Abstract |
We discovered 16 cases of glucose-6-phosphate dehydrogenase (G6PD) deficiency, 7 cases of pyruvate kinase (PK) deficiency, a case of phosphofructokinase deficiency, and a case of phosphoglycerate kinase deficiency by the enzymatic analysis of 117 cases associated with hereditary non-spherocytic hemolytic anemia.
PK deficiency is the most common erythroenzymopathy associated with hereditary non-spherocytic hemolytic anemia due to a glycolytic enzyme defect. We determined three mutations (664-6 ins GAC, 1468T, 1436A) by the analysis of 5 Japanese PK-deficient families. In addition, we elucidated the new homozygous mutation (1231A) among a Korean boy, which is the first Korean PK deficiency determined the moleculer abnormalities at the gene level.
G6PD A is a common G6PD variant among Africans that may cause acute hemolysis triggered by infections and certain drugs, as well as by fava beans. This phenotype can be caused by a combination of the common 376G mutation and either of 3 additional mutations: 202A, 680T, or 968T. We discovered a Japanese boy of G6PD deficiency associated with acute hemolysis. Using PCR-SSCP analysis combined with direct sequencing, we identified a missense mutation 202A, but failed to find the counterpart 376G mutation or any additional mutation. We concluded that a single mutation 202A in the human G6PD gene can cause acute hemolysis by itself.
We examined the red cell deformabilities between normal and PK-deficient conditions at a single cell level using the microchannel array. We could not obtain the microchannel less than 6 μm. Therefore, it was impossible to demonstrate the apparent result of the reduced red cell deformabilities under the ATP-deficient state at the physiological condition.
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Research Products
(8 results)
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[Publications] Iwai, K., Hirono, A., Fujii, H., Miwa, S., Ishii, A., et al.: "Distribution of glucose-6-phosphatedehydrogenase mutations in Southeast Asia"Hum. Genet.. 108(6). 445-449 (2001)
Description
「研究成果報告書概要(和文)」より
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[Publications] Iwai, K., Hirono, A., Matsuoka, H., Kawamoto, F., Horie, T., Lin, K., Tantular, I.S., Dachlan, V.P., Notopuro, H., Hidayah, N.I., Salim, A.M.A., Fujii, H., Miwa, S., Ishii, AS.: "Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia."Hum. Genet. it. 8(6). 445-449 (2001)
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「研究成果報告書概要(欧文)」より
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[Publications] Taki, T., Hirono, A., Kawata, M., Den, M., Kurihara^Y., Shimizu, H., Yamada, K., Fujii, H., Miwa: "ft A new glucose-6-phosphate dehydrogenase variant Sugao (826 C ->T) exhibiting chronic hemolytic anemia with episodes of hemolytic crisis immediately after birth."Int. J. Hematol. fay. 153-156 (2001)
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「研究成果報告書概要(欧文)」より
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