Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
200 participants
OBSERVATIONAL
2006-07-31
2028-07-31
Brief Summary
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Detailed Description
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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.
Conditions
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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Affected Population
Subjects with an elevated hemoglobin concentration or an elevated platelet count
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
2. Subjects with an elevated platelet count (\>450,000)
Exclusion Criteria
2. Subjects with heart disease, left to right heart shunt or severe pulmonary disease
ALL
No
Sponsors
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National Heart, Lung, and Blood Institute (NHLBI)
NIH
University of Utah
OTHER
Responsible Party
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Principal Investigators
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Josef T. Prchal, MD
Role: PRINCIPAL_INVESTIGATOR
University of Utah
Locations
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University of Utah
Salt Lake City, Utah, United States
Countries
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Central Contacts
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Facility Contacts
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References
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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. doi: 10.1182/blood-2007-03-082503. No abstract available.
Skoda R, Prchal JT. Lessons from familial myeloproliferative disorders. Semin Hematol. 2005 Oct;42(4):266-73. doi: 10.1053/j.seminhematol.2005.08.002.
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.
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.
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. doi: 10.1016/s1079-9796(03)00167-0.
Prchal JT, Gordeuk VR. The HIF2A gene in familial erythrocytosis. N Engl J Med. 2008 May 1;358(18):1966; author reply 1966-7. No abstract available.
Agarwal N, Mojica-Henshaw MP, Simmons ED, Hussey D, Ou CN, Prchal JT. Familial polycythemia caused by a novel mutation in the beta globin gene: essential role of P50 in evaluation of familial polycythemia. Int J Med Sci. 2007 Oct 4;4(4):232-6. doi: 10.7150/ijms.4.232.
Other Identifiers
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17665
Identifier Type: -
Identifier Source: org_study_id
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