Secondary Pulmonary Hypertension in Adults With Sickle Cell Anemia
Secondary Pulmonary Hypertension in Adults With Sickle Cell Anemia
The purpose of this study is to determine how often people with sickle cell anemia develop
 pulmonary hypertension a serious disease in which blood pressure in the artery to the lungs
 is elevated.

 Men and women 18 years of age and older with sickle cell anemia may be eligible for this
 study. Participants will undergo an evaluation at Howard University s Comprehensive Sickle
 Cell Center in Washington, D.C. or at the National Institutes of Health in Bethesda,
 Maryland. It will include the following:

 -  medical history

 -  physical examination

 -  blood collection (no more than 50 ml., or about 1/3 cup) to confirm the diagnosis of
 sickle cell anemia, sickle cell trait or beta-thalassemia (Some blood will be stored for
 future research testing on sickle cell anemia.)

 -  echocardiogram (ultrasound test of the heart) to check the pumping action of the heart
 and the rate at which blood travels through the tricuspid valve.

 Following this evaluation, a study nurse will contact participants twice a month for 2 months
 and then once every 3 months for the next 3 years for a telephone interview. The interview
 will include questions about general health and recent health-related events, such as
 hospitalizations or emergency room visits.
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 or response to treatment.
-  INCLUSION CRITERIA:

 All volunteer subjects must be at least 18 years of age and must be able to provide
 informed, written consent for participation in this study.

 Sickle Cell Patients:

 -  Male and females over 18 years of age.

 -  Diagnosis of sickle cell disease (electrophoretic documentation of SS, SC, or S-beta
 thallassemia genotype is required).

 EXCLUSION CRITERIA:

 Sickle Cell Patients:

 -  Hb A-only phenotype and sickle cell trait.

 -  Decisionally impaired subjects.

 INCLUSION CRITERIA:

 Control Subjects:

 -  Male and females African American subjects over 18 years of age.

 -  Exclusion of sickle cell disease (electrophoretic documentation of hemoglobin A is
 required).

 EXCLUSION CRITERIA:

 Control Subjects:

 -  Diagnosis of sickle cell disease (electrophoretic documentation of SS, or SC, or SB
 thallassemia genotype is required.)

 -  Decisionally impaired subjects.