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Sickle Cell Disease

  • Normal blood cells are smooth, round, flexible and shaped like the letter O. However, if your child has sickle cell disease, his blood cells can become stiff, sticky and shaped like the letter C, causing a variety of problems.

    Sickle cell disease is an inherited blood disorder that occurs when a protein called hemoglobin is defective.

    • It’s estimated that more than 70,000 people in the United States have sickle cell disease.

    • All children born in the United States are a result, most children are diagnosed very early on.

    • The disease primarily affects children of African descent and Hispanics of Caribbean ancestry. It also occurs in children of Middle-Eastern and Indian descent.

    • Sickle cell disease affects hemoglobin, the protein in red blood cells that carries oxygen from the lungs to all parts of the body.

    • Sickle cell is inherited, passed from parent to child through a defective hemoglobin gene and is not contagious.

    • The symptoms and severity of the disease varies depending on the specific type of sickle cell disease.

    • Anemia is the most common symptom of all variations of sickle cell. Stem cell transplant may offer a cure for some patients.

    How Dana-Farber/Boston Children's Cancer and Blood Disorders Center approaches sickle cell disease

    Children with sickle cell disease are treated through the Sickle Cell Disease Treatment Program at Dana-Farber/Boston Children's Cancer and Blood Disorders Center, an integrated pediatric hematology and oncology partnership between Dana-Farber Cancer Institute and Boston Children’s Hospital. Our expert hematologists diagnose and treat children and young adults with sickle cell disease of all types.

    Our physicians and nurses work to maintain the well-being of more than 200 children affected by sickle cell disease—and their families—by focusing on health maintenance strategies, including:

    • Understanding how to recognize the early signs of complications,
    • Teaching preventive therapies that help your child avoid symptoms>
    • Screening for acute complications

    Because sickle cell can affect nearly every major organ in the body, children in this program also receive treatment from other specialty programs at Dana-Farber/Boston Children’s, on an as-needed basis.

    In addition, through Dana-Farber/Boston Children's Cancer and Blood Disorders Center, patients have access to one of the largest pediatric transplantation programs in the United States. Our program is actively pursuing protocols for transplantation of blood-related disorders, including sickle cell disease.

  • We understand how overwhelming a diagnosis of sickle cell disease can be, especially because most children are diagnosed as infants. Right now, you probably have a lot of questions. How dangerous is this condition? Will my child outgrow it? What is the very best treatment? What do we do next?

    We’ve tried to provide some answers to those questions, and our experts can explain your child’s condition fully when you meet with us.

    What is sickle cell disease?

    Sickle cell disease is an inherited blood disorder that occurs when a protein called hemoglobin that helps red blood cells carry oxygen from the lungs to all parts of the body is defective.

    What do sickle cells look like?

    Normal red blood cells are smooth, round and flexible, 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, 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, which can be painful, is what causes the majority of the complications of the disease.

    Sickle cells only live for about 14 days, while normal red blood cells can live up to 120 days. This is because the spleen, which helps filter bacterial infections from the blood and act as the recycle center for old red blood cells, tends to destroy the sickle cells. This leads to a lack of oxygen-carrying red cells in the blood, causing chronic anemia. Sickle cells can also damage your child’s spleen, increasing the risk of bacterial infection.

    What causes sickle cell disease?

    As a parent, you undoubtedly want to know what may have caused your child’s sickle cell disease. Sickle cell disease is an inherited blood disorder, passed from parent to child through a defective hemoglobin S gene (HbS).

    What are the different types of sickle cell disease?

    There are a number of different types of sickle cell disease that differ in symptoms and severity. The type of sickle cell disease depends on the specific genetic defect that your child has inherited.

    The types of sickle cell disease include:

    Sickle cell trait (HbAS)

    • A person has an HbS gene and normal hemoglobin A gene (HbA).
    • Under normal circumstances, these children have no symptoms of sickle cell disease.

    Sickle cell anemia (HbSS)

    • child has two HbS genes, one inherited from each parent
    • most common and most severe form of sickle cell disease
    • variety of symptoms and complications of sickle cell disease occur
    • severe, chronic anemia is common

    Sickle cell with hemoglobin C disease (HbSC)

    • child has one HbS gene and one defective hemoglobin C gene (HbC)
    • mild to moderate anemiamay occur
    • some complications of sickle cell disease may occur but to a milder degree

    Hemoglobin S-beta-thalassemia

    • comes in two forms: sickle beta zero and sickle beta plus
    • child has one HbS gene and one beta thalassemia gene
    • mild to severe anemiamay occur
    • children may experience a broad range of sickle cell symptoms and disease severity

    Other forms of sickle cell disease (compound heterozygotes), including HbSE, HbSO and HbSD:

    • child has one HbS gene and another abnormal hemoglobin gene
    • symptoms vary depending on the specific genetic defect

    How likely is it for a child to develop sickle cell disease?

    The following are the most common ways a child can develop sickle cell disease:

    • If both parents have sickle cell trait, each of their children will have 25 percent chance of having sickle cell disease.
    • If one parent has sickle cell disease and the other has sickle cell trait, each of their children will have a 50 percent chance of having sickle cell disease and a 50 percent chance of having sickle cell trait.
    • If one parent has sickle cell disease and the other does not, all of their children will have sickle cell trait, but none of them will have sickle cell disease.

    Is sickle cell disease common?

    About 70,000 people in the United States have sickle cell disease. It mostly affects children of African descent and Hispanics of Caribbean ancestry, but also is found in those with Middle Eastern, Indian, Latin American, Native American and Mediterranean heritage. Millions worldwide suffer complications from sickle cell disease; 2 million African-Americans, or 1 in 12, have the sickle cell trait.

    Symptoms and complications

    What are the symptoms of sickle cell disease?

    Each child may experience symptoms differently. The symptoms of sickle cell disease can vary greatly depending on the specific type of the disease.

    Symptoms and complications of sickle disease may include:

    Anemia

    • most common symptom of all the sickle cell diseases
    • if chronic, may delay healing, and normal growth and development

    Pain crisis (also called vaso-occlusive crisis)

    • occurs when the flow of blood is blocked to an area because the sickle-shaped cells have become stuck in the blood vessel
    • pain can occur anywhere but most often occurs in the bones of the arms, legs, chest and spine
    • painful swelling of the fingers and toes (dactylitis) can occur in infants and toddlers
    • priapism, a painful sickling that occurs in the penis
    • any interruption in blood flow to the body can result in pain, swelling and possible death of the surrounding tissue not receiving adequate blood and oxygen

    Acute chest syndrome

    • when sickle-shaped cells stick together and block the flow of oxygen in the tiny vessels in the lungs
    • can be life-threatening
    • often occurs suddenly, when the body is under stress from infection, fever or dehydration
    • resembles pneumonia and includes fever and breathing symptoms such as cough or difficulty catching breath.
    • multiple episodes can cause permanent lung damage

    Bacterial sepsis and infection

    • Most children, by toddlerhood, no longer have a functioning spleen.
    • The spleen is important in the body’s defense against serious bacterial infections; therefore, children with sickle cell are at risk for life-threatening bacterial infections.
    • Fever is a symptom that must be evaluated immediately to rule out a life-threatening bacterial infection.

    Splenic sequestration (pooling)

    • pooling of sickle-shaped cells in the spleen, causing a sudden drop in hemoglobin
    • can be life threatening if not treated promptly
    • spleen can become enlarged and painful from the increase in blood volume
    • spleen becomes scarred and permanently damaged after repeat episodes
    • repeated episodes of sequestration requires surgical removal of the spleen

    Stroke

    • This is a sudden and severe complication that can occur in children with sickle cell disease.
    • Sickle-shaped cells can block the major blood vessels that supply the brain with oxygen.
    • Any interruption in the flow of blood and oxygen to the brain can result in devastating neurological impairment.
    • Symptoms of a stroke can include: weakness, particularly on one side of the body; slurred speech, seizure, confusion, dizziness or loss of coordination, or severe headache.
    • Having had one stroke, a child is much more likely to have more strokes and requires preventative therapy.

    Jaundice

    • common sign and symptom of sickle disease
    • results from excess red blood cells being destroyed in the spleen

    Any and all major organs are also affected by sickle cell disease. The liver, heart, kidneys, gallbladder, eyes, bones and joints can suffer damage from the abnormal function of the sickle cells and their inability to flow through the small blood vessels correctly. Problems may include:

    • increased bacterial infections (blood, bone, lung)
    • leg ulcers
    • bone/joint damage
    • early gallstones
    • kidney damage and loss of body water in the urine
    • eye damage

    FAQ

    Q: Will my child be OK?

    A:
    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.

    Q: Can my child participate in sports or other athletic activities?

    A:
    The sports and activities that your child can participate in will depend on his specific type of sickle cell disease and other factors. Your child’s physician will make specific recommendations on the types of activities that may be appropriate for your child. That said, many children with mild forms of the disease have little or no physical limitations.

    Q: Where will my child be treated?

    A:
    Children treated through our Sickle Cell Disease Program will receive care in our hematology clinic on the sixth floor of the Fegan building. For many appointments and certain procedures, your child can also receive care at one of our satellite offices.

    Q: What services are available to help my child and my family cope?

    A:
    We offer a variety of support services to help you, your child and your family deal with the long-term effects of sickle cell disease.

    Questions to ask your doctor

    After your child is diagnosed with sickle cell disease, you may feel overwhelmed with information. It can be easy to lose track of the questions that occur to you.

    Lots of parents find it helpful to jot down questions as they arise—that way, when you talk to your child’s doctors, you can be sure that all of your concerns are addressed.

    Here are some questions to get you started:

    • What specific type of sickle cell disease does my child have?
    • What symptoms might my child experience?
    • How will my child’s symptoms be managed?
    • What are the potential complications? How can I help my child avoid them and recognize them if they do occur?
    • Should my child be on hydroxyurea?
    • Will my child need transfusions?
    • How often will my child need to come in for follow-up care?
    • Can my child play sports?
    CarePages
    Keep family and friends up to date during your child’s treatment by creating a free Children’s CarePage.



    Reviewed by Matthew Heeney, MD,
    © Children’s Hospital Boston, 2011

  • The first step in treating your child is forming 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:

    • review of newborn screening results
    • hemoglobin electrophoresis
    • complete family history
    • additional blood tests

    In addition, using complex genetic tests, we are able to identify the specific type of sickle cell disease as well as your child’s unique genetic variations.

    After we complete all necessary tests, our experts meet to review and discuss what they have learned about your child's condition. Then we will meet with you and your family to discuss the results and outline the best treatment options.

    Newborn screening

    Certain newborn screening tests are done on every baby born in every United States within the first few days of life to detect serious, life-threatening diseases.

    • All babies are tested within the first several days of life.
    • A hemoglobin electrophoresis is a blood test that can determine if your child is a carrier of sickle cell trait or has any of the diseases associated with sickle cell.

     

     

     

  • We know how difficult a diagnosis of sickle cell disease can be, both for your child and for your whole family. That's why our physicians are focused on family-centered care: From your first visit, you'll work with a team of professionals who are committed to supporting all of your family's physical and psychosocial needs. We'll work with you to create a care plan that's best for your child.

    If your child has been diagnosed with sickle cell disease, you'll naturally be eager to know how your child's physician will treat it. Your child's physician will determine a specific course of treatment based on several factors, including:

    • your child's age, overall health and medical history
    • the type of sickle cell disease
    • any complications your child has experienced
    • your child's tolerance for specific medications, procedures or therapies
    • how your child's doctors expects the disease to progress

    Early diagnosis and prevention of complications is critical in sickle cell disease treatment.

    How is sickle cell disease treated?

    Children with sickle cell disease are treated through the Sickle Cell Treatment Program at Dana-Farber/Boston Children's Cancer and Blood Disorders Center, an integrated pediatric hematology and oncology partnership between Dana-Farber Cancer Institute and Boston Children’s Hospital.

    Treatment options for specific complications of sickle cell include:

    Prevention of infections

    • take preventative dosing penicillin until age 5 years old
    • complete all routine childhood vaccinations and additional sickle cell specific vaccinations
    • maintain vigilance regarding fevers and signs of infection

    Hydroxyurea therapy

    • Hydroxyurea is an oral medication that causes the body to produce fetal hemoglobin, a type of hemoglobin normally found only in fetuses and very young children.
    • The healthy fetal hemoglobin can significantly reduce the side effects and complications of sickle cell disease.
    • Our clinicians are experienced in the use of hydroxyurea in selected patients for the prevention of acute and chronic complications.

    Transfusion therapy

    • Children with sickle cell disease may receive blood transfusions to prevent complications of the disease such as stroke.
    • Blood transfusions may also be given in order to treat severe anemia and other complications of the disease.

    Iron chelators

    • Sickle cell anemia patients who require chronic red blood cell transfusion to prevent stroke gradually become iron overloaded.
    • Without removal of this iron by chelation, it can become toxic to several vital organs.
    • Children may take chelators orally or by injection in order to remove excess iron from the body.

    Your child's physician may also recommend specific treatments based on the symptoms your child experiences.

    For anemia:

    For pain:

    • drinking plenty of water daily (eight to 10 glasses) or receiving fluids intravenously
    • hydroxyurea medication to prevent painful events
    • pain medications
    • blood transfusionsto dilute HbS with normal hemoglobin

    For acute chest syndrome (ACS):

    • blood transfusions to dilute HbS with normal hemoglobin
    • hydroxyurea medication to prevent ACS

    For splenic sequestrations:

    • blood transfusions to dilute HbS with normal hemoglobin and promote ‘release' of blood trapped in the spleen
    • penicillin for those who have their spleen surgically removed

    For stroke:

    • blood transfusions

    Stem cell transplant

    In some cases, if the sickle cell disease is expected to be especially severe, your child's doctor may recommend a stem cell transplant, which can cure the disease, but which comes with significant risks.

    • Blood-forming stem cells develop into red blood cells to carry oxygen, white blood cells to fight disease and infection and platelets to aid in blood clotting.
       
    • Normal stem cells are transplanted from another person (allogenic transplantation). In sickle cell disease, transplants almost always come from a healthy sibling with compatible stem cells.
       
    • The stem cells are used to help restore normal blood production in children with sickle cell disease.
       
    • In sickle cell disease, a successful transplant can cure your child of the disease.

    Stem cell transplants come with significant risks and side effects. Your child's physician will determine whether a stem cell transplant may be appropriate for your child.

    Will my child require long-term care?

    Sickle cell disease is a life-long condition requiring ongoing management. Your child will require regular follow-up in order to properly manage the disease and keep him healthy. Our team of hematological specialists is here for you and your child to provide evaluation, preventive management and treatment if symptoms or complications arise. We care for children through adolescence and young adulthood and help them transition to adult care when appropriate.

    Will my child be OK?

    Your child's long-term health will depend on the type of sickle cell he has inherited and whether complications are prevented, detected 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, availability of safe blood transfusions, and effective iron chelators, most children with sickle cell disease can expect to live relatively long and healthy lives.

    In general, children with HbSS experience the most severe symptoms and complications. Children with other forms of the disease may experience symptoms ranging from mild to severe, depending on the specific form of the disease. Children with sickle cell trait do not typically have symptoms under normal circumstances.

    Your child's physician can tell you more about what to expect and how to manage your child's disease.

    Coping and support

    We understand that you may have a lot of questions when your child is diagnosed with sickle cell disease. How will it affect my child long term? What do we do next? We've tried to provide some answers to those questions in the following pages, but there are also a number of other resources to help you and your family through this difficult time.
     
    Patient education: From the 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 will also reach out to you by phone, continuing the care and support you received while at Children's.
     
    Parent 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 the Children's chaplaincy. 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 hospital experience.
     
    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 financial difficulties.

    On our Patient and Family Support Services web pages, you can read all you need to know about:

    • Getting to Dana-Farber/Boston Children's
    • Accommodations
    • Navigating the hospital experience
    • Resources that are available for your family

     


     

  • At Dana-Farber/Boston Children’s Hospital, we have a history of excellence in treating sickle cell disease. In the 1980s, David Nathan, MD, now President Emeritus of the Dana-Farber Cancer Institute, first recognized the potential to use hydroxyurea for sickle cell treatment. His innovative research ultimately led to the availability of this highly effective treatment for patients nationwide.

    Today, our researchers continue to work on the development of new methods of diagnosis and treatment for sickle cell disease.

    Research underway

    Stem cell research:

    • Using animal models, 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.

    Stem cell transplantation:

    • Through Dana-Farber/Boston Children's Cancer and Blood Disorders Center, sickle cell disease patients have access to one of the largest pediatric transplantation programs in the United States.

    • The program is actively pursuing protocols for transplantation of hematological diagnoses.

    • 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.

    New medication

    Clinical trial seeks to calm down sickle-cell disease 

    The 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, could ease that inflammation and reduce sickle-cell symptoms, particularly pain and acute chest syndrome. David Nathan, MD, former physician-in-chief at Boston Children’s and president emeritus of Dana-Farber, will direct the trial’s clinical component.  Safety testing has begun in adults with sickle-cell disease (but no recent pain crises) at Brigham and Women¹s Hospital and Washington University in St. Louis.

    If all goes well, the team will move quickly to test small doses of Lexiscan in adults with pain crises and acute chest syndrome, and, in the second year, in children age 14 and older. Matthew Heeney, MD, clinical director of the Sickle Cell Program at Dana-Farber/Boston Children’s, will lead the pediatric portion of the trial.

    Nathan’s primary co-investigator, Joel Linden, PhD, at the La Jolla Institute for Allergy & Immunology, laid the trial’s scientific groundwork. Linden had shown that adenosine, a cellular signaling molecule similar to Lexiscan’s active ingredient, significantly reduces inflammation and pulmonary defects in mouse models of sickle-cell disease. With the help of a hematologist from Washington University, he also pinpointed a rare group of white blood cells—invariant natural killer T cells (iNKT cells)—as responsible for the inflammation. The collaboration, aided by a  $1.2 million stimulus grant from the National Heart Lung and Blood Institute, began serendipitously.

    Nathan, hearing about adenosine at a cancer conference, wondered if it might reduce inflammation in sickle-cell disease. A simple internet search led him to Linden. Read a feature about the trial on Dana-Farber's website and a press release from the La Jolla Institute.

    Gene therapy

    Reviving a dormant gene could ease sickle-cell disease

    Hemoglobin is a protein in red blood cells that helps them carry oxygen from the lungs to all parts of the body. In children with sickle cell disease, hemoglobin is defective causing it to be stiff, sticky and shaped like the letter C.

    Stuart Orkin, MD, chairman of Pediatric Oncology, and Vijay Sankaran, an MD-PhD student in Orkin's lab, have identified a way to compensate for this problem: getting red blood cells to make another type of 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. When they turned this gene off, cells began making HbF in large amounts.

    Orkin and Sankaran are conducting further studies to figure out how to target this gene with medications. If a strategy is found, it could potentially transform sickle cell disease into a benign or nearly benign condition.

    Clinical Trials

    For many children with rare or hard-to-treat conditions, clinical trials provide new options.

  • Living with Sickle Cell Disease

    Meet Damali and Amiel Reid, two siblings who are living with sickle cell anemia, and learn about their struggles with the disease and their hopes for a cure.

    Damali, 33, has started a support group for other people living with the disease, and Amiel, 16, has spent a summer learning about sickle cell by working in the lab of Dr. George Daley, Director of Stem Cell Transplantation at Boston Children's Hospital.

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