Venous Thrombosis Biomarkers in Sickle Cell Disease and Sickle Cell Trait
Background: Venous thromboembolism (VTE) includes the abnormal clotting of blood in a deep vein of the upper or lower limbs (deep vein thrombosis) that may travel to and block a blood vessel in the lung (pulmonary embolism). Some people with sickle cell disease (SCD)-a red blood cell disorder-seem to be at greater risk for developing these blood clots. Researchers want to study the blood of people with SCD and VTE as well as healthy people to develop better treatments to prevent blood clots.
Objective: To study blood clotting in SCD because it is the most common cause of vascular death after a heart attack or stroke.
Eligibility: People ages 18-80 who have SCD (with or without a history of blood clots) or the trait for SCD, and healthy volunteers
Design: Participants will be screened with medical history, physical exam, and medical records review. They will give blood samples. Participants will have phone calls either every 3 months or once a year, for 2 years. They will give updates on their health. They may give additional medical records. The phone calls may last up to 30 minutes. If participants have a VTE or pain crisis episode, they may visit the Clinical Center. These visits may last up to 4 hours. They will repeat the screening tests and give blood samples. Some participants may be invited to take part in blood studies. After 2 years, some participants will have a follow-up visit at the Clinical Center. Participation will last for about 2 years.
⁃ Sickle cell disease with and without VTE
• Sickle cell disease (HbSS, HbSC and HbS/beta-thalassemia genotypes) in steady state.
• Diagnosis of at least one or more VTE within 5 years of study enrolment confirmed by radiologic imaging (for SCD patients with VTE).
• Absence of clinical history of VTE (for SCD controls)
• Between 18 and 80 years of age.
• Ability to provide informed written consent.
⁃ Sickle cell trait
• Sickle cell disease (HbAS genotype).
• Absence of clinical history of VTE
• Between 18 and 80 years of age.
• Ability to provide informed written consent.
⁃ Ethnically matched controls
• Between 18 and 80 years of age.
• African, or of African descent.
• Ability to provide informed written consent.
• Absence of clinical history of VTE