KidsMD Health Topics

Thalassemia

  • Thalassemia is an inherited blood disorder that causes the body to produce less hemoglobin, the protein in red blood cells that helps them carry oxygen from the lungs to all parts of the body. The condition causes anemia that can range from mild to life-threatening.

    Severe forms of thalassemia (thalassemia major) require lifelong follow-up care and regular blood transfusions. Some other forms are more manageable and require little or no treatment.

    How Dana-Farber/Boston Children’s Cancer and Blood Disorders Center approaches thalassemia

    At the Thalassemia Program of Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, our experts provide comprehensive care for children and adults with all forms of thalassemia. About our team:

    • Specialists in hematology and transfusion medicine lead our care team, while our partners in cardiology, endocrinology, gastroenterology, audiology, ophthalmology, infectious disease, genetics and genetic counseling join your child’s care team when needed.
    • We offer expertise in thalassemia treatment, as well as access to the latest clinical trials.
    • We offer advanced magnetic resonance imaging techniques to monitor children for transfusion-related iron overload, including FerriScan and T2*.
    • We have a nurse practitioner who works with you to identify your and your child’s needs and coordinates your child’s care.
    • We offer one the largest and most active Stem Cell Transplant Center in the United States.
    • We are involved in a number of research initiatives aimed at improving thalassemia care including:
      • investigating the effectiveness of new oral iron chelators, drugs that remove excess iron from the body
      • improving existing chelation therapies
      • using stem cell transplants to cure patients with thalassemia major
      • developing new ways to assess iron levels in the body
      • improving the effectiveness of currently available thalassemia treatment

    Reviewed by Kapil Saxena, MD, and Ellis Neufeld, MD, PhD
    © Boston Children’s Hospital 2013

  • What is thalassemia?

    Thalassemia is an inherited blood disorder that causes the body to produce less hemoglobin, the protein in red blood cells that helps them carry oxygen from the lungs to all parts of the body. Hemoglobin is made up of four parts: two alpha proteins and two beta proteins. Thalassemia affects one or more of the genes that produce these proteins.

    How serious is thalassemia in children?

    The severity of the disease depends on the type of thalassemia (see below). Children with thalassemia major require ongoing treatment and blood transfusions throughout their lives. In addition, they need ongoing chelation therapy to remove the excess iron that builds up in the blood from these transfusions. Milder forms of thalassemia, including thalassemia intermedia and thalassemia minor, require less aggressive or no treatment at all.

    What are the different types of thalassemia?

    Everyone has four alpha genes and two beta genes that together control the production of hemoglobin. There are three major types of thalassemia, classified based on the severity of symptoms and the genetic defect causing the disease:

    Thalassemia minor and silent carriers

    Children with thalassemia minor or trait have two alpha genes or one beta gene missing or damaged, while those that are “silent carriers” have one missing or damaged alpha gene. These children do not experience symptoms (except mild anemia in some cases of thalassemia minor), and they do not require treatment.

    Thalassemia intermedia

    In children with beta thalassemia intermedia, one or both beta genes are not working properly. They have mild to severe anemia and can be diagnosed early in childhood or later in life. They may need blood transfusions during pregnancy or when very sick.

    Thalassemia major

    Children with thalassemia major need ongoing medical care, including blood transfusions to alleviate severe anemia and chelation therapy to remove excess iron from the blood.

    There are two subtypes of thalassemia major:

    Alpha thalassemia major

    • most serious and most rare form of the subtypes of thalassemia
    • all four alpha genes are missing
    • if untreated, leads to miscarriage or death of the baby shortly after birth
    • may be treated with blood transfusions in the womb if discovered early enough in the pregnancy
    • babies who survive require lifelong blood transfusions or stem cell transplant and extensive medical care

    Beta thalassemia major (also called Cooley’s anemia, after the discoverer)

    • neither beta gene is not working properly
    • symptoms, which begin during the first year of life, include severe anemia
    • monthly blood transfusions needed
    • chelation therapy also is needed to remove excess iron that builds up in the body due to frequent blood transfusions

    Other types of thalassemia

    • Hemoglobin E beta-thalassemia: This form of thalassemia is more common in children of Southeast Asian descent. It results from two separate genetic defects:
      • a defective type of hemoglobin known as hemoglobin E
      • a defective gene that causes beta thalassemia
    • Hemoglobin H disease alpha-thalassemia: This form of thalassemia is most common in Southern China and Southeast Asia. In Hemoglobin H disease:
      • three alpha genes are missing
      • moderate to severe anemia may occur
      • frequent blood transfusions may be needed
      • genetic counseling and screening may be needed in adulthood, as the risk of having children with alpha thalassemia major is increased

    Is thalassemia common?

    The defective genes that cause thalassemia are relatively common, especially in people of South Asian, African and Mediterranean descent. However, thalassemia occurs in many populations around the world.

    About 300 million people around the world have the “thalassemia trait,” which puts them at risk of having children with some form of thalassemia. More than 1 million people have thalassemia intermedia, while more than 100,000 people have thalassemia major. In the United States, there are only about 1,000 people with thalassemia major.

    Hemoglobin H disease and Hemoglobin E/beta thalassemia are extremely common in Southern China and South and Southeast Asia.

    What are the symptoms of thalassemia?

    Symptoms of thalassemia depend on the number of genes affected and can range from no symptoms at all to severe anemia.

    The primary symptoms of thalassemia are a result of anemia, a decreased number of healthy red blood cells. However, each child may experience symptoms differently.

    The following are the most common symptoms of anemia:

    • pale skin, lips, hands or under the eyelids
    • increased heart rate (tachycardia)
    • breathlessness, or difficulty catching a breath (dyspnea)
    • lack of energy, or tiring easily (fatigue)
    • dizziness or vertigo, especially upon standing
    • headache
    • irritability
    • irregular menstruation cycles
    • absent or delayed menstruation (amenorrhea)
    • jaundice, or yellowing of skin, eyes and mouth
    • enlarged spleen or liver (splenomegaly, hepatomegaly)
    • slow or delayed growth and development

    Thalassemia intermedia causes less severe symptoms than thalassemia major, which can make it difficult to diagnose, because it may resemble other forms of anemia.

    Thalassemia major causes the most severe anemia and requires ongoing treatment and regular blood transfusions.

  • The first step in treating your child with thalassemia is forming an accurate and complete diagnosis.

    Doctors diagnose thalassemia using blood tests, including:

    • A complete blood count (CBC) measures the number of red blood cells and their concentration of hemoglobin.
    • special hemoglobin tests
    • Genetic tests are used to identify specific genetic defects that cause thalassemia.

    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 thalassemia treatment options.

  • Children treated through the Dana-Farber/Boston Children's Cancer and Blood Disorders Center's Thalassemia Program receive care in our hematology clinic. Those who require transfusions are seen in the Center for Ambulatory Treatment in Boston or Waltham. For many appointments and certain procedures, your child also can receive care at one of our satellite offices.

    Treatment for thalassemia depends on the subtype of the disorder, but may include:

    • treatment for anemia based on severity
    • blood transfusions
    • treatment for the effects of blood transfusions, such as iron overload

    Transfusion therapy for children with thalassemia

    • Children with thalassemia may receive blood transfusions to treat the symptoms of anemia.
    • Transfusions provide healthy blood cells from a donor, which can alleviate the symptoms caused by your child’s unhealthy hemoglobin.

    Iron overload assessment for children with thalassemia

    • Children who need frequent blood transfusions build up excess iron in their bodies, which can cause severe complications including liver and heart damage.
    • We use advanced imaging technologies to help us track iron levels in children with severe thalassemia and decide when chelation therapy is necessary.

    Oral iron chlelators for children with thalassemia

    • Children may take chelators orally or by injection in order to remove excess iron from the body.

    Stem cell transplant to cure thalassemia

    • Dana-Farber/Boston Children’s offers promising clinical trials using stem cell transplants to cure patients with thalassemia major

    What’s the long-term outlook for children with thalassemia?

    Your child’s long-term health will depend on the type of thalassemia he has. In the past, patients with thalassemia major had a significantly reduced life expectancy. Today, however, thanks to blood transfusion therapy and effective iron chelators, the life expectancy for children with severe thalassemia is constantly improving.

    Children with thalassemia major require life-long, ongoing medical care, including blood transfusions. In general, those with thalassemia intermedia experience less severe symptoms and need regular medical follow-up, but they may not require frequent blood transfusions.

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

    Our team of hematological specialists provides evaluation, preventive management and treatment if symptoms or complications arise. We care for children through adolescence and adulthood and help them transition to adult care when appropriate.

    Coping and support

    There also are a number of resources available at Dana-Farber/Boston Children’s to help you and your family.
     
    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. They also will reach out to you by phone, continuing the care and support you received while at Dana-Farber//Boston Children’s.
     
    Parent to parent: Want to talk with someone whose child has been treated for thalassemia? 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 who can share their experience.
     
    Faith-based support: If you are in need of spiritual support, we will help connect you with the chaplaincy at Boston Children's Hospital. 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 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
  • History of excellence

    At Dana-Farber/Boston Children's Cancer and Blood Disorders Center, we have a history of excellence in treating children with thalassemia. Today, our researchers continue to work on the development of new methods of diagnosis and treatment of thalassemia.

    Here are just a few of the breakthroughs we’ve been a part of:

    1960s:

    • David Nathan, MD, recognized the important role of hypertransfusion to treat thalassemia

    1970s:

    • Richard Proper, MD, and Nathan demonstrated effective iron chelation (removal of excess iron from the blood) using the intravenous drug deferoxamine (Desferal).
    • Stuart Orkin, MD, and Nathan developed the first genetic test for prenatal diagnosis of thalassemia
    • Nathan, Orkin, and Yuet Wai Kan, MD, MBBS, along with others identified the molecular biology of thalassemia syndromes.

    2000s:

    • A study tested the effectiveness of a new oral iron chelator, deferasirox (Exjade), which was approved for the treatment of iron overload in thalassemia patients.
    • We are involved in a number of other research initiatives aimed at improving thalassemia care including:
      • investigating the effectiveness of another new oral iron chelator, called FBS0701.
      • improving the effectiveness of currently available therapies
      • using stem cell transplants to cure patients with thalassemia major
      • improving chelation therapy
      • developing new ways to assess iron levels in the body

    New developments in thalassemia research

    Hemoglobin is a protein in red blood cells that helps them carry oxygen from the lungs to all parts of the body. Children with thalassemia often experience anemia, which causes fatigue, pale skin, increased heart rate and other symptoms ranging from mild to life-threatening.

    Orkin and Vijay Sankaran, MD, PhD, identified a way to compensate for this problem: getting red blood cells to make another type of hemoglobin (HbF) that normally stops being made after birth.

    Orkin and Sankaran discovered a gene that prevents 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 thalassemia into a benign or nearly benign condition. Learn more.

    Clinical Trials

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



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