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Natural History of Sickle Cell Disease and Other Hemolytic Disorders

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2016 by National Institutes of Health Clinical Center (CC)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) ) Identifier:
First received: April 15, 2004
Last updated: September 3, 2016
Last verified: September 2016

Under this study, NIH physicians will evaluate and treat patients with sickle cell disease and other hemolytic disorders (diseases involving damage to red blood cells) in order to learn more about the diseases and the painful attacks and lung complications that are often associated with them. Patients in this study will not receive experimental therapy, but will be given standard medical care. Patients who meet the medical criteria for another NIH protocol may be offered participation in that study, but are not obligated to enroll in it.

Patients 5 years of age and older with known or suspected sickle cell disease, sickle cell trait or another anemia or red blood cell disorder such as thalassemia may be eligible for this study. Participants will be admitted to the NIH Clinical Center as an inpatient or outpatient for evaluation and treatment. In addition to a physical examination, evaluation may include the following types of tests and procedures:

  • Routine blood and urine tests, including a 24-hour urine collection
  • Blood test for genetic analysis to look for genes that may be relevant to the development of sickle cell anemia or other hemolytic disorders
  • X-rays, if needed, to evaluate the patient's condition
  • Computerized tomography (CT) scans or magnetic resonance imaging (MRI), or both, as needed to examine the lungs, brain, or heart and to measure blood flow in these organs.
  • Echocardiogram (heart ultrasound) to determine if there is high blood pressure in the lungs
  • Pulmonary (lung) function tests and cardiopulmonary (heart and lung) exercise test to evaluate breathing and exercise capacity to determine if there are lung or heart problems associated with the patient's condition.
  • Heart catheterization to measure blood pressures in the heart and lung blood vessels will be offered if the results of clinical evaluation or echocardiogram suggest the presence of high blood pressure in the lungs. For this procedure, the patient is given a local anesthetic, and a catheter (plastic tube) is inserted into a vein in the arm, thigh, chest, or neck until it passes through the right side of the heart. When the catheter is in place, a tiny balloon at the end of the catheter is inflated, temporarily blocking the blood flow and allowing the physician to measure pressure in the lung artery system.
  • Ventilation-perfusion scan to measure breathing and circulation in all areas of the lungs. For the perfusion scan, radioactive albumin is injected into a vein and the patient is placed on a table that is positioned under the scanner. The lungs are scanned to detect the location of the radioactive particles as blood flows through the lungs. The ventilation scan is performed by scanning the lungs while the patient inhales a radioactive gas. A mask is placed over the nose and mouth, and the patient breathes the gas while sitting or lying on the table beneath the arm of the scanner. The gas is breathed out entirely in a matter of minutes and is removed from the room by a special exhaust system.

Patients are offered treatment for high blood pressure in the lungs. The medicines used are approved by the Food and Drug Administration for patients with pulmonary hypertension.

Hemoglobin SC Disease
Hematologic Diseases
Sickle Cell Anemia
Hemolytic Anemia

Study Type: Observational
Official Title: Studies of the Natural History of Sickle Cell Disease

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 99999999
Study Start Date: April 2004
Detailed Description:

This protocol will permit the establishment of a repository of biospecimens from individuals affected with sickle cell disease to identify and evaluate underlying disease mechanism(s), and to facilitate understanding of the pathogenesis and natural history of vaso-occlusive painful crisis and other complications of the disease. Patients will be evaluated with a medical history and physical examination and routine laboratory studies will be obtained as needed to assess diagnosis, disease activity, and disease complications and to monitor for treatment-related responses and toxicities. This protocol may also provide for the continued storage and analysis of clinical and research data, and biospecimens previously obtained from other NIH Institutional Review Board (IRB)-approved protocols with subject consent.

Patients eligible for other research protocols will be offered an opportunity to participate in these studies after signed informed consent has been obtained. Apart from such protocols, any medical care or additional tests/investigations recommended or provided to the patient will be consistent with routine standards of practice and will be provided in consultation with the patient s referring physician


Ages Eligible for Study:   5 Years and older   (Child, Adult, Senior)
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
  • Individuals with known or suspected sickle cell disease
  • 2 years of age and older
  • Willingness and capacity to provide informed consent or appropriate informed consent from parent or legal guardian
  • Patients seen at sickle outpatient clinics at any one of the participating centers (CNHS or NIH).


  • Patient and/or guardian unable/unwilling to give informed consent or assent.
  • Patients less than 2 years of age.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00081523

Contact: James Nichols, R.N. (301) 435-2345
Contact: Swee Lay Thein, M.D. (301) 402-6699

United States, Maryland
Suburban Hospital Recruiting
Bethesda, Maryland, United States, 20814
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010   
Sponsors and Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
Principal Investigator: Swee Lay Thein, M.D. National Heart, Lung, and Blood Institute (NHLBI)
  More Information

Additional Information:
Publications automatically indexed to this study by Identifier (NCT Number):

Responsible Party: National Heart, Lung, and Blood Institute (NHLBI) Identifier: NCT00081523     History of Changes
Other Study ID Numbers: 040161  04-H-0161 
Study First Received: April 15, 2004
Last Updated: September 3, 2016
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Pulmonary Hypertension
Acute Chest Syndrome
Nitric Oxide
Pain Crisis
Treatment Options
Sickle Cell Disease
Sickle Cell Trait
Red Blood Cell Disorder
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic Disorders

Additional relevant MeSH terms:
Anemia, Sickle Cell
Hematologic Diseases
Anemia, Hemolytic
Hemoglobin SC Disease
Anemia, Hemolytic, Congenital
Genetic Diseases, Inborn
Pathologic Processes processed this record on October 21, 2016