This study will collect representative blood samples from healthy children and adults and
from children and adults who have unique red blood cell features that are related to sickle
cell disease. Sickle cell disease is a blood disease that limits the ability of red blood
cells to carry oxygen throughout the body. The purpose of the study is to collect a variety
of blood samples that may then be used to investigate advances and potential new drug
treatments for sickle cell disease.
Volunteers must be at least 8 years of old. Samples will be taken both from healthy
volunteers and from volunteers who have unique red blood cell features that are related to
sickle cell disease. Candidates will be screened with a medical history.
During the study, participants will undergo a one- to two-hour outpatient procedure at the
National Institutes of Health Clinical Center. Once researchers have explained the study and
obtained the participant s consent, participants will donate 8 cc (approximately 2 teaspoons)
Because repeat testing helps researchers validate study findings, participants who have the
unique red blood cell features mentioned above may also be asked if they are willing to
return and donate another 2 cc to 8 cc of blood for additional studies. The amount of blood
drawn will not exceed 50 ml with any eight-week period for adults or 7 cc within any six-week
period for children.
The critical event leading to serious morbidity in sickle cell disease is polymerization of
the abnormal hemoglobin to form fibers that stiffen and distort red blood cells and
consequently, cause vaso-occlusion in the small vessels of the tissues. Currently,
hydroxyurea is the only approved drug for treating sickle cell disease, but is only partially
effective. This protocol seeks to identify by high sensitivity in vitro screening methods
additional compounds that inhibit sickling. Subjects with sickle cell trait or disease and
normal volunteers will be asked to donate blood samples for studies to verify their
hemoglobinopathies and then periodically donate small volume samples of fresh blood for use
in ongoing high throughput screening tests to identify potentially clinically useful
- INCLUSION CRITERIA:
- Patients with sickle cell trait
- Patients with known hemoglobinopathies involving one or two genes for sickle
- Healthy volunteers for control experiments
- Women who are pregnant or breastfeeding are eligible to enroll in this protocol.
- A pregnant or breastfeeding woman will not be enrolled of the donation of
research bloos samples poses any clinical risk.
- No pregnant minors will be enrolled.
- Age range: Minors greater than or equal to 8 years of age and adults greater than or
equal to 18 years of age
- Subjects who are unable to comprehend the investigational nature of the laboratory
research are ineligible to enroll in this protocol.
- As a safety precaution in handling the blood samples, patients with HIV, Hepatitis B
or Hepatitis C will be excluded from the study. HIV, Hepatitis B or Hepatitits C
testing will not be done under this study. Participants must be co-enrolled under
another NIH protocol where the screening evalustion has been performed.