2001 Fiscal Year Final Research Report Summary
Clinical and biological analysis of familial essential thrombocythemia
| Project/Area Number |
11671008
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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 | Nagoya City University |
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Principal Investigator |
WAKITA Atsushi Nagoya City University Medical School, Assistant Professor, 医学部, 講師 (20264715)
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| Co-Investigator(Kenkyū-buntansha) |
KOMATSU Hirokazu Nagoya City University Medical School, Research Associate, 医学部, 助手 (60336675)
IIDA Shinsuke Nagoya City University Medical School, Assistant Professor, 医学部, 講師 (50295614)
UEDA Ryuzo Nagoya City University Medical School, Professor, 医学部, 教授 (20142169)
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| Project Period (FY) |
1999 – 2001
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| Keywords | Familial / Thrombocythemia / thrombopoietin / C-Mpl |
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| Research Abstract |
We investigate 42 members out degree in a family with hereditary essential thrombocythemia. Ten members had already died, and the causes of the deaths are 2 of old age, one brain hemorrage and one cerebral infarction. Eighteen members who alive were received blood examination, essential thrombocythemia was diagnosed for 9 patients. In the essential thrombocythemia patients, the age was 7 to 64 years old. The oldest patients had complication brain hemorrage and he died of second hemorragic attack. On deaths, his bone marrow showed myelofibrosis and platelet count was lower than normal. There was no patients with trombotic or hemorragic complications. Other symptoms resulting from platelet increment were, one patient had headache and one had dizziness, they were not serious. Platelet function test showed decreased ADP aggregation and epinephrine aggregation in the patients, they were normal in the healthy members. Platelet adhesion test was almost normal. Oral mucous sample was harvested from 7 female patients, which were examined clonality analysis using polymorphism of HUMARA gene. There was no evidence of clonal shift in the all seven patients. Sereum thrombopoietin level almost normal in the patients, and completely normal in the healthy members. Analysis of c-Mpl mutaion was daone in two patients. Kown mutations were not detected in our patients.
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