cell disease is an inherited blood disorder. Normal red blood cells are smooth and
flexible discs, like the letter O, enabling them to move easily through your
child’s blood vessels. In contrast, sickle cells are stiff, sticky and often
shaped like the letter C. Sickle cells tend to cluster together and to the
lining of blood vessels, making it difficult for them to move through small
blood vessels. These clusters can create blockages in your child’s small blood
vessels, stopping the movement of healthy, oxygen-carrying blood. This blockage
decreases oxygen delivery to the tissues, which can cause pain, organ
dysfunction, and is what causes the majority of the complications of the
Dana-Farber/Boston Children's is an international leader in improving
treatment and quality of life for children affected by sickle cell disease. We treat sickle cell anemia (HbSS),
sickle cell with hemoglobin C disease (HbSC), hemoglobin S-beta-thalassemia (HbSβ0
and Hbβ+ thalassemia), and less common compound forms, including HbSD, HbSO and HbSE.
Through our Sickle Cell Disease Program,
children with sickle cell disease have access to world-renown pediatric
hematologists, top-rated nursing care, and the latest treatment
options including hydroxyurea and stem cell transplantation. We are also one of
the few centers in the nation using a new type of technology, called
PreciseType, to precisely match blood donors to sickle cell patients who need blood
transfusion. PreciseType allows our doctors to more precisely type the patient’s blood groups and decreases the
risk of developing antibodies to the transfused donor blood.
red blood cells are smooth and flexible discs, like the letter O, enabling them
to move easily through your child’s blood vessels. In contrast, sickle cells
are stiff, sticky and often shaped like the letter C. Sickle cells tend to
cluster together and to the lining of blood vessels, making it difficult for
them to move through small blood vessels. These clusters can create blockages
in your child’s small blood vessels, stopping the movement of healthy,
oxygen-carrying blood. This blockage decreases oxygen delivery to the tissues,
which can cause pain, organ dysfunction, and is what causes the majority of the
complications of the disease.
spleen, which helps filter bacterial infections from the blood and acts as the
recycle center for old red blood cells, tends to destroy the misshapen sickle
cells faster than normal red blood cells. Sickle cells only live for about 14
days, while normal red blood cells can live up to 120 days. This leads to a chronic lack of
oxygen-carrying red cells in the blood, called anemia. Sickle cells can also
damage your child’s spleen, increasing the risk of certain potentially
life-threatening bacterial infections.
worldwide suffer complications from sickle cell disease and nearly 300,000
infants with sickle cell disease are born each year. Approximately 2 million
African-Americans, or 1 in 12, are ‘carriers’ of the sickle mutation (called
sickle cell trait). About 100,000 people in the United States have sickle cell
disease. It mostly affects children of African descent, Hispanics and Caribbean
ancestry, but also is found in those with Middle Eastern, Indian, Latin
American and Mediterranean heritage. The Dana-Farber/Boston
Children’s Global Health Initiative is working to improve survival for
children with sickle cell disease around the world, including programs to establish
newborn screening for sickle cell disease and developing research partnerships in
following are the most common ways a child can develop sickle cell disease:
children with sickle cell disease have inherited sickle cell trait (HbAS) from at least one parent. People with sickle cell trait have one copy of the HbS gene and one copy of the normal hemoglobin A gene
Sickle cell trait is not a form of sickle cell disease, although in rare circumstances,
sickle cell trait can become symptomatic. People with sickle cell trait may
pass on the HbS gene to their children.
There are a several different types of sickle cell disease that differ
in symptoms and severity. The type of sickle cell disease depends on the
specific gene variant that your child has inherited.
Types of sickle cell
cell anemia (HbSS)
cell with hemoglobin C disease (HbSC)
forms of sickle cell disease (compound heterozygotes), including HbSE, HbSO and
The severity of the symptoms of sickle cell disease can vary greatly depending
on the specific genetic type and even within those of the same type. Each child may experience symptoms differently and it is very difficult to predict.
and complications of sickle disease may include:
crisis (also called vaso-occlusive crisis)
chest syndrome (ACS)
infection and sepsis
first step in treating your child is providing an accurate and complete
diagnosis. Early diagnosis of sickle cell disease is essential in providing
proper preventative treatment for some of the devastating potential
complications. Sickle cell disease can be identified by the following tests:
addition, using genetic testing, we are able to identify the specific type of
sickle cell disease as well as your child’s unique genetic variations.
newborn screening tests are done within the first few days of life on every
baby born in every United States to detect serious, life-threatening diseases. A hemoglobin
electrophoresis is a newborn screening blood test that can determine if your child is a carrier
of sickle cell trait or has sickle cell disease.
From your first visit to our Sickle Cell Disease Program, you'll work with a team of professionals who are committed to supporting all of your family's medical and psychosocial needs. As a team, we’ll focus on health maintenance strategies, including:
We'll work with you to create a care plan that's best for your child. This treatment plan will be based on
several factors, including:
are aimed at relieving symptoms or preventing complications.
of bacterial infections and sepsis
Most children with sickle cell disease must:
child's physician may also recommend specific treatments based on the symptoms
your child experiences.
acute chest syndrome (ACS)
Right now, the only cure for sickle cell disease is
stem cell transplant (also called bone marrow transplant) – the transplantation of normal blood stem cells from another person (the
”donor”) to your child. In sickle cell
disease, the best transplant outcomes are almost always when the donor is a
healthy sibling with compatible stem cells. The stem cells replace the sickle
blood stem cells and restore normal blood production in children with sickle
first step is to determine if the patient has a compatible full-sibling donor.
This is done with a blood test or a swab of the cheek.
stem cell transplant also carries risk, it is recommended that patients with a
compatible full-sibling donor meet with our pediatric stem cell doctors to learn
more about the process. Dana-Farber/Boston Children's has one of the
largest pediatric stem cell transplant programs in the United States. Our Stem
Cell Transplant Center is at the forefront of new, improved protocols for stem
cell transplantation for blood-related disorders, including sickle cell
understand that you may have many questions when your child is diagnosed
with sickle cell disease. We offer a variety of resources to help you and your
Patient education: From your child’s first visit through follow-up care,
our nurses will be on hand to walk you through your child's treatment and help
answer any questions you may have—How can I prevent complications or
recognize them if they occur? How often will my child require follow-up? They
also will reach out to you by phone, continuing the care and support you receive
while at Dana-Farber/Boston Children's.
Social work and mental health professionals: Our social workers and
mental health clinicians have helped many other families in your situation. We
can offer counseling and assistance with issues such as coping with your
child's diagnosis, stresses relating to coping with illness and dealing with
to parent: Want to talk with
someone whose child has been treated for sickle cell disease? We can often put
you in touch with other families who have been through the same experience that
you and your child are facing, and share their experience.
Faith-based support: If you are in need of spiritual support, we
will help connect you with our Chaplaincy Program. Our program includes nearly
a dozen clergy representing Episcopal, Jewish, Lutheran, Muslim, Roman
Catholic, Unitarian and United Church of Christ traditions who will listen to
you, pray with you and help you observe your own faith practices during your
our Patient and Family Support Services web pages, you can learn about:
In the setting of one of the world’s most
extensive pediatric research hospitals, we apply a science-driven approach to sickle cell disease treatment. Dana-Farber/Boston Children's was one of
the original National Institutes of Health-funded comprehensive sickle cell
centers in the United States, and a site for the former Sickle Cell Disease
Clinical Research Network. Our researchers conduct clinical and laboratory
studies to increase knowledge of sickle cell disorders and and enhance treatments.
We make it a priority to stay at the forefront of scientific research and
clinical care, and to advise families and referring physicians about the latest
treatment options and clinical trials for sickle cell disease. Undoubtedly you will have an opportunity to
participate in research and contribute to our knowledge of this disease.
the 1980s, our physicians – led by David Nathan, MD
– were the first
to recognize the potential to use hydroxyurea for sickle cell treatment. Dr. Nathan’s innovative research ultimately
led to the availability of this highly effective treatment for patients
our researchers continue to work on the development of new methods of diagnosis
and treatment for sickle cell disease.
Stem cell research
Researchers in the
lab of George Daly, MD, PhD, are working to correct the defective sickle
cell gene in blood-forming stem cells. This would allow
children to receive transplants of their own cells rather than relying on a
donor, thereby reducing the associated risks of transplant and curing the
disease. Other stem cell transplantation studies are
underway to look at the use of reduced intensity conditioning and minimizing
the occurrence of graft-versus-host disease, two potentially life-threatening
complications of transplantation.
therapy: Reviving a
dormant gene could ease sickle-cell disease
the protein in red blood cells, carries
oxygen from the lungs to all parts of the body. In children with sickle cell
disease, hemoglobin is defective causing blood cells to be stiff, sticky and
shaped like the letter C. Stuart Orkin, MD,
and Vijay Sankaran, MD, PhD, have identified a
way to compensate for this problem: getting red blood cells to make fetal
hemoglobin that normally stops being made after birth. Until now, there's been
no good direct therapy to reactivate HbF production. Orkin, Sankaran and collaborators discovered a gene, called BCL11A, which directly
suppresses HbF production. Orkin and Sankaran are conducting further studies to figure out
how to target the BCL11A gene with medications.
David Williams, MD, is developing a gene therapy
approach to manipulate BCL11A, thereby providing another strategy for cure that
would not require stem cells from a
Either of these gene therapy strategies could potentially transform sickle cell disease into a benign or
nearly benign condition.
trial seeks to calm sickle cell disease
classic view of sickle-cell disease is mechanical: small blood vessels become
clogged with misshapen red blood cells, causing pain and eventual organ damage.
However, more than a decade ago, Orah Platt, MD, Chief of Laboratory Medicine
at Boston Children’s Hospital, proposed that inflammation caused by leukocytes
is an important contributing factor. It’s now known that vessel blockage sparks
an inflammatory response that greatly exacerbates sickle-cell pain crises and
also, in a vicious cycle, exacerbates the sickling itself.
Now, a multicenter clinical trial is exploring whether a drug used in
cardiovascular stress testing, Lexiscan (regadenoson), could ease that
inflammation and reduce sickle-cell symptoms, particularly pain and acute chest
syndrome. David Nathan, MD, will direct the trial’s clinical component. Matthew Heeney, MD,
will lead the pediatric portion of the trial.
Anti-platelet clinical trial
Leveraging the experience of the Center for Platelet
Research Studies, Matthew Heeney, MD, is a Global Principal Investigator of an international
clinical trial studying of the anti-platelet agent Effient (prasugrel) to
decrease sickle pain.
Clinical trial to reduce pain
Dana-Farber/Boston Children’s is participating in an international
multi-site study to determine whether the investigational drug SelG1 can help
reduce or even prevent pain crises in patients with sickle cell disease. SelG1
prevents various cells in the bloodstream from sticking together. By stopping
these cell-to-cell interactions, SelG1 may prevent small blood vessels from
becoming blocked and therefore reduce the occurrence and severity of pain
crises. Venée Tubman, MD, MMSc, is leading this trial at Dana-Farber/Boston Children’s.
Learn more about clinical
many children with rare or hard-to-treat conditions, clinical trials provide
developed at Dana-Farber/Boston Children's and other major research centers are
prolonging and improving quality of life for patients with sickle cell disease.
Median life expectancy is now near 50 years for HbSS and even longer for those
taking hydroxyurea consistently.
your child's long-term health will depend on the type of sickle defect he has
and whether complications are prevented and treated appropriately. In the past,
patients with severe sickle cell disease had significantly diminished life
expectancies. Today, however, thanks to the development of hydroxyurea and the
availability of blood transfusions and iron chelators, most children with
sickle cell disease can expect to live relatively long and healthy lives.
cell disease is a life-long condition requiring ongoing management. Your child
will require regular follow-up visits, screening tests and treatments in order
to properly manage the disease and keep him healthy.
children with sickle cell disease participate in sports?The sports and
activities that your child can participate in will depend on her specific type
of sickle cell disease and other factors. In general, children with sickle cell
disease can participate in all sports
but may need to modify participation based on risk of dehydration, cold
exposure and endurance. Your child’s
physician can make specific recommendations on the types of activities that may
be appropriate for your child. Many children with mild forms of the disease
have little or no physical limitations.
For more information on sickle cell disease and how to manage symptoms in children:
Matthew Heeney, MD, clinical leader of the Sickle Cell Program, shares his care philosophy for patients managing sickle cell disease.