People with severe congenital anemias, such as sickle cell anemia and beta-thalassemia, have
been cured with bone marrow transplantation (BMT). The procedure, however, is limited to
children younger than the age of 16 because the risks are lower for children than for adults.
The purpose of this study is to explore the use of a BMT regimen that, instead of
chemotherapy, uses a low dose of radiation, combined with two immunosuppressive drugs. This
type BMT procedure is described as nonmyeloablative, meaning that it does not destroy the
patient s bone marrow. It is hoped that this type of BMT will be safe for patients normally
excluded from the procedure because of their age and other reasons.
To participate in this study, patients must be between the ages of 18 and 65 and have a
sibling who is a well-matched stem-cell donor. Beyond the standard BMT protocol, study
participants will undergo additional procedures. The donor will receive G-CSF by injection
for five days; then his or her stem cells will be collected and frozen one month prior to
BMT. Approximately one month later, the patient will be given two immune-suppressing drugs,
Campath 1-H and Sirolimus, as well as a single low dose of total body irradiation and then
the cells from the donor will be infused.
Prior to their participation in this study, patients will undergo the following evaluations:
a physical exam, blood work, breathing tests, heart-function tests, chest and sinus x-rays,
and bone-marrow sampling.
This study will determine the best ways to collect, process and store umbilical cord blood
from babies with sickle cell disease, sickle cell trait and unaffected babies. Sickle cell
disease is an abnormality of the hemoglobin in red blood cells that causes the cells to
change shape and clump together, preventing their normal flow in the bloodstream. This
impairs blood flow to various organs, and the resulting oxygen deprivation causes organ
Cord blood is rich in stem cells (cells produced in the bone marrow that mature to different
types of blood cells), which may prove useful in new sickle cell therapies. However, cord
blood from babies with sickle cell trait, sickle cell disease and normal babies may act
differently under laboratory conditions, so it is important to learn how best to work with
blood from all three groups of babies for future use in possible treatments.
Pregnant women between 18 and 45 years of age who are at risk of having an infant with sickle
cell disease and normal volunteers who are pregnant and not at risk for this disease may be
eligible for this study. Potential participants will be counseled about donating her infant s
blood in order to make an informed choice.
All women who participate in the study will provide a medical history and have blood
collected from the umbilical cord and placenta (afterbirth) after the baby s delivery. The
blood will be tested for various infectious diseases, processed, frozen and stored for
research purposes. In addition, blood from women with babies at risk for sickle cell disease
will be tested for the presence of the sickle cell gene, tissue typed, and used for research
- Sickle cell disease If cord blood tests show the baby has sickle cell disease, the blood
will be frozen for an indefinite period of time for possible use in future treatment of
the child. This treatment could include stem cell transplantation or gene therapy,
treatments are not currently considered routine for sickle cell disease.
- Sickle cell trait or normal hemoglobin If cord blood tests show the baby has sickle cell
trait or is unaffected, the blood will be processed and stored for up to 3 years, during
which time it may possibly be used to treat a currently living or future sibling with
sickle cell disease. After 3 years, the participant may agree to either have the blood
discarded, given to research or moved to another facility for continued storage at the
participant s expense, if there is a storage fee. Alternatively, if there is no
anticipated future need for the collected blood, or if it does not meet standards needed
for future treatment, it will be used in NIH-approved research studies.
Participants and their family doctor or the baby s pediatrician will be contacted twice a
year for information about changes in the baby s health. Participants may also be asked
permission to perform new tests developed by researchers.