Polycythemia, Thrombocytosis
Conditions
Keywords
Primary Familial and Congenital Polycythemia, Polycythemia, Molecular Biology, Genetics, Erythropoiesis, EPOR mutation, Thrombocytosis, Hypoxia
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.
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.
Interventions
None listed
Sponsors
University of Utah
National Heart, Lung, and Blood Institute (NHLBI)
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
1. Subjects with an elevated hemoglobin concentration (\>18 in males and \>16 in females) 2. Subjects with an elevated platelet count (\>450,000)
Exclusion criteria
1. Subjects who have a known acquired cause of polycythemia and thrombocytosis 2. Subjects with heart disease, left to right heart shunt or severe pulmonary disease
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Identify the molecular defect of Polycythemic and Thrombocythemic disorders | Weekly |
Countries
United States
Contacts
CONTACTJosef T Prchal, MD
CONTACTSoo Jin Kim, MS
PRINCIPAL_INVESTIGATORJosef T. Prchal, MD
University of Utah
Outcome results
None listed