Molecular Biology of Polycythemia and Thrombocytosis
Study Details
Study Description
Brief Summary
Our study is designed to characterize the clinical picture and genetic pattern of Polycythemia and Thrombocytosis. The purpose of this project is to find a gene and its mutation that causes these disorders. When this is accomplished, new therapies to control and eventually cure the disorder can be designed.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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Detailed Description
Our hypothesis is that genes and their mutation are causative of certain types of polycythemia and thrombocytosis. These will be sought for by genetic and cell biology means. The purpose of the study is to identify the molecular defect of these disorders.
5-7 teaspoons of peripheral blood will be drawn on all study subjects. After DNA is obtained, linkage analysis and/or mutation analysis will be performed.
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Affected Population Subjects with an elevated hemoglobin concentration or an elevated platelet count |
Outcome Measures
Primary Outcome Measures
- Identify the molecular defect of Polycythemic and Thrombocythemic disorders [Weekly]
Eligibility Criteria
Criteria
Inclusion Criteria:
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Subjects with an elevated hemoglobin concentration (>18 in males and >16 in females)
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Subjects with an elevated platelet count (>450,000)
Exclusion Criteria:
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Subjects who have a known acquired cause of polycythemia and thrombocytosis
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Subjects with heart disease, left to right heart shunt or severe pulmonary disease
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | University of Utah | Salt Lake City | Utah | United States | 84132 |
Sponsors and Collaborators
- University of Utah
- National Heart, Lung, and Blood Institute (NHLBI)
Investigators
- Principal Investigator: Josef T. Prchal, MD, University of Utah
Study Documents (Full-Text)
None provided.More Information
Publications
- Bento MC, Chang KT, Guan Y, Liu E, Caldas G, Gatti RA, Prchal JT. Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients. Haematologica. 2005 Jan;90(1):128-9.
- Gregg XT, Prchal JT. Recent advances in the molecular biology of congenital polycythemias and polycythemia vera. Curr Hematol Rep. 2005 May;4(3):238-42. Review.
- Jedlickova K, Stockton DW, Prchal JT. Possible primary familial and congenital polycythemia locus at 7q22.1-7q22.2. Blood Cells Mol Dis. 2003 Nov-Dec;31(3):327-31.
- Percy MJ, Sanchez M, Swierczek S, McMullin MF, Mojica-Henshaw MP, Muckenthaler MU, Prchal JT, Hentze MW. Is congenital secondary erythrocytosis/polycythemia caused by activating mutations within the HIF-2 alpha iron-responsive element? Blood. 2007 Oct 1;110(7):2776-7.
- Skoda R, Prchal JT. Lessons from familial myeloproliferative disorders. Semin Hematol. 2005 Oct;42(4):266-73. Review.
- 17665
- 5R01HL050077-13