Is congenital secondary erythrocytosis/polycythemia caused by activating mutations within the HIF-2 alpha iron-responsive element?
Melanie J Percy, Mayka Sanchez, Sabina Swierczek...
https://pubmed.ncbi.nlm.nih.gov/17881647Actively Recruiting
All Genders
ID00722527
Molecular Biology of Polycythemia and Thrombocytosis
Led by University of Utah · Updated on 2026-03-09
200
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
U
University of Utah
Lead Sponsor
N
National Heart, Lung, and Blood Institute (NHLBI)
Collaborating Sponsor
AI-Summary
What this Trial Is About
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
Brief Title
Molecular Biology of Polycythemia and Thrombocytosis
Who Can Participate
All Genders
Eligibility Criteria
You may qualify if you...
- Subjects with an elevated hemoglobin concentration (>18 in males and >16 in females)
- Subjects with an elevated platelet count (>450,000)
You will not qualify if you...
- Subjects who have a known acquired cause of polycythemia and thrombocytosis
- Subjects with heart disease, left to right heart shunt or severe pulmonary disease
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Sample Collection
Duration - Single time point
Participants provide blood samples to help identify the molecular defects causing polycythemia and thrombocytosis.
1 visit (in-person)
Long-term Monitoring
Duration - Weekly until study completion
Participants are monitored weekly to support ongoing analysis of molecular defects associated with their condition.
Weekly visits
Trial Site Locations
Total: 1 location
1
University of Utah
Salt Lake City, Utah, United States, 84132
Actively Recruiting
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Research Team
J
Josef T Prchal, MD
S
Soo Jin Kim, MS
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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Published Research Related To This Trial
Lessons from familial myeloproliferative disorders.
Radek Skoda, Josef T Prchal
https://pubmed.ncbi.nlm.nih.gov/16210040Recent advances in the molecular biology of congenital polycythemias and polycythemia vera.
Xylina T Gregg, Josef T Prchal
https://pubmed.ncbi.nlm.nih.gov/15865879Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients.
Maria Celeste Bento, Ko Tung Chang, Yongli Guan...
https://pubmed.ncbi.nlm.nih.gov/15642680Possible primary familial and congenital polycythemia locus at 7q22.1-7q22.2.
Katerina Jedlickova, David W Stockton, Josef T Prchal
https://pubmed.ncbi.nlm.nih.gov/14636647The HIF2A gene in familial erythrocytosis.
Josef T Prchal, Victor R Gordeuk
https://pubmed.ncbi.nlm.nih.gov/18456917Familial polycythemia caused by a novel mutation in the beta globin gene: essential role of P50 in evaluation of familial polycythemia.
Neeraj Agarwal, Mariluz P Mojica-Henshaw, Elizabeth D Simmons...
https://pubmed.ncbi.nlm.nih.gov/17952198