Abstract

Sickle cell anemia is an autosomal recessive disorder and the most common genetic disease affecting African-Americans. Approximately 0.15% of African-Americans are homozygous for sickle cell disease, and 8% have sickle cell trait. Acute pain crisis, acute chest syndrome (ACS), and secondary pulmonary hypertension are common complications of sickle cell anemia. Mortality rates of sickle cell patients with pulmonary hypertension are significantly increased as compared to patients without pulmonary hypertension. Recent studies report up to 40% mortality at 22 months after detection of elevated pulmonary artery pressures in sickle cell patients. Furthermore, pulmonary hypertension is thought to occur in up to 30% of clinic patients with sickle cell anemia. This study is designed to determine the prevalence and prognosis of secondary pulmonary hypertension in adult patients with sickle cell anemia and to determine whether genetic polymorphisms in candidate genes contribute to its development.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
Clinical Center (CLC)
Type
Intramural Research (Z01)
Project #
1Z01CL001174-02
Application #
6683807
Study Section
(CCM)
Project Start
Project End
Budget Start
Budget End
Support Year
2
Fiscal Year
2002
Total Cost
Indirect Cost

  Institution

Name
Clinical Center
Department
Type
DUNS #
City
State
Country
United States
Zip Code

  Publications

Taylor 6th, James G; Nolan, Vikki G; Mendelsohn, Laurel et al. (2008) Chronic hyper-hemolysis in sickle cell anemia: association of vascular complications and mortality with less frequent vasoocclusive pain. PLoS One 3:e2095
Taylor 6th, James G; Woods, Gerald M; Machado, Roberto et al. (2008) Severe pulmonary hypertension in an adolescent with sickle cell disease. Am J Hematol 83:71-2
Taylor 6th, James G; Ackah, Diana; Cobb, Crystal et al. (2008) Mutations and polymorphisms in hemoglobin genes and the risk of pulmonary hypertension and death in sickle cell disease. Am J Hematol 83:6-14
Gordeuk, Victor R; Sachdev, Vandana; Taylor, James G et al. (2008) Relative systemic hypertension in patients with sickle cell disease is associated with risk of pulmonary hypertension and renal insufficiency. Am J Hematol 83:15-8
Sachdev, Vandana; Machado, Roberto F; Shizukuda, Yukitaka et al. (2007) Diastolic dysfunction is an independent risk factor for death in patients with sickle cell disease. J Am Coll Cardiol 49:472-9
Kato, Gregory J; Onyekwere, Onyinye C; Gladwin, Mark T (2007) Pulmonary hypertension in sickle cell disease: relevance to children. Pediatr Hematol Oncol 24:159-70
Villagra, Jose; Shiva, Sruti; Hunter, Lori A et al. (2007) Platelet activation in patients with sickle disease, hemolysis-associated pulmonary hypertension, and nitric oxide scavenging by cell-free hemoglobin. Blood 110:2166-72
Kato, Gregory J; Gladwin, Mark T; Steinberg, Martin H (2007) Deconstructing sickle cell disease: reappraisal of the role of hemolysis in the development of clinical subphenotypes. Blood Rev 21:37-47
Kato, Gregory J; McGowan, Vicki; Machado, Roberto F et al. (2006) Lactate dehydrogenase as a biomarker of hemolysis-associated nitric oxide resistance, priapism, leg ulceration, pulmonary hypertension, and death in patients with sickle cell disease. Blood 107:2279-85
Machado, Roberto F; Anthi, Anastasia; Steinberg, Martin H et al. (2006) N-terminal pro-brain natriuretic peptide levels and risk of death in sickle cell disease. JAMA 296:310-8

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