Recent advances in the molecular biology of congenital polycythemias and polycythemia vera.
Xylina T Gregg, Josef T Prchal
https://pubmed.ncbi.nlm.nih.gov/15865879/Actively Recruiting
Led by University of Utah · Updated on 2026-03-09
200
Participants Needed
1
Research Sites
N/A
Total Duration
Researchers are studying the genetic causes of Polycythemia and Thrombocytosis, conditions characterized by elevated levels of red blood cells and platelets respectively. The study aims to identify specific genes and mutations that cause these disorders, which could lead to new treatments in the future. This observational study is designed to understand the molecular defects underlying these blood disorders. Participants with high hemoglobin levels or elevated platelet counts will be involved. Blood samples of 5 to 7 teaspoons will be collected to extract DNA for genetic analysis, including linkage and mutation studies. The study focuses on affected individuals to map the genetic pattern associated with these disorders. During the study, participants will provide blood samples for weekly genetic testing to identify molecular defects. No treatments or interventions are administered as this is an observational study. Researchers will monitor genetic markers and clinical data to better understand the disorders. Participation duration and follow-up depend on the study protocol and scheduling.
CONDITIONS
Molecular Biology of Polycythemia and Thrombocytosis
J
Josef T Prchal, MD
S
Soo Jin Kim, MS
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University of Utah
Lead Sponsor
National Heart, Lung, and Blood Institute (NHLBI)
Collaborating Sponsor
You may qualify if you...
You will not qualify if you...
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - Single time point
Participants provide blood samples to help identify the molecular defects causing polycythemia and thrombocytosis.
1 visit (in-person)
Duration - Weekly until study completion
Participants are monitored weekly to support ongoing analysis of molecular defects associated with their condition.
Weekly visits
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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https://pubmed.ncbi.nlm.nih.gov/17952198/University of Utah
Lead Sponsor
National Heart, Lung, and Blood Institute (NHLBI)
Collaborating Sponsor