Thalassemia
Comprehensive Care for a Patient's Lifetime
Thalassemias are a family of blood disorders that cause the body to make less hemoglobin and thus fewer healthy red blood cells, resulting in anemia. As a result of the low hemoglobin, less oxygen is carried to the body's tissues, causing anemia symptoms. Children with thalassemia may have mild to severe anemia. Each condition affects the body in different ways and may cause different types of complications.
- Those with severe anemia often require regular transfusions and are said to have "thalassemia major."
- Some with intermediate symptoms are said to have "thalassemia intermedia."
- Those who are "carriers" have mild anemia and are said to have "thalassemia minor" or "thalassemia trait."
NewYork-Presbyterian's children's hospitals offer comprehensive care for people with thalassemia to reduce the impact of the disease on the body and give patients the best chance of living with a good quality of life. We provide a full range of services including onsite screening, diagnosis, counseling, treatment, and support from multidisciplinary teams featuring thalassemia experts.
About Our Program
NewYork-Presbyterian Komansky Children's Hospital is home to the New York Comprehensive Thalassemia Center, one of the largest thalassemia programs in the United States, which provides care for adults and children with the condition. It is designated as a hemoglobinopathy specialty center by the New York State Department of Health. Treatment for thalassemia is also provided at NewYork-Presbyterian Morgan Stanley Children's Hospital, which offers stem cell transplantation — the only cure for thalassemia — to patients with stem cell donors.
Types of thalassemia
Normal hemoglobin or hemoglobin A (HbA) is made of four protein chains: two "alpha-globin" chains and two "beta-globin" chains. Thalassemia occurs when there is a defect in genes that control the production of one of these proteins. Each healthy person has two beta and two alpha-globin genes. In alpha thalassemia, there is a defect in the gene(s) related to the alpha-globin protein; beta-thalassemia is caused by defects in the gene(s) that control the production of beta-globin.
Children with beta-thalassemia major inherit a defective gene from both parents who are carriers, while those with thalassemia minor have one faulty gene from one parent and a normal one from the other. Beta thalassemia major is also called Cooley anemia. Thalassemias occur most often among people of Italian, Greek, Middle Eastern, Southern and Eastern Asian, and African descent.
Alpha thalassemia major happens when all four genes are defective, while individuals with one, two, or three defective alpha genes have the trait, with mild to no symptoms.
Symptoms of thalassemia
People with alpha and beta-thalassemia minor have small red blood cells but no visible symptoms. Children born with beta-thalassemia major develop severe anemia (low red blood cell counts) during their first year of life. Other symptoms may include:
- Fatigue
- Delayed growth
- Shortness of breath
- Changes in the bones of the face
- Yellowing of the skin (jaundice)
How we diagnose thalassemia
Our care begins with a thorough evaluation that includes blood tests to examine the size, shape, and number of red blood cells. We also use a test called hemoglobin electrophoresis to see if there is an abnormal form of hemoglobin present. Genetic testing may confirm the diagnosis and is also offered with genetic counseling to family members concerned about carrying the gene.
Our Approach to Care
The teams at both of our children's hospitals understand the toll that a chronic disease like thalassemia can take on patients and their families. We provide the most effective and individualized treatment regimens available along with periodic monitoring for possible complications. Our teams include pediatric hematologists with expertise in thalassemia, as well as nurses, child life specialists, social workers, and genetic counselors. We work closely with cardiologists, nephrologists, gastroenterologists, endocrinologists, fertility experts, orthopedists, and bone specialists to ensure your child's life is the best it can be. We also help adolescents transition smoothly to adult care, encouraging them to become independent and to advocate for their health.
How we treat thalassemia
We customize your child's treatment based on the type and severity of the thalassemia.
Blood transfusions to boost the red blood cell counts are the mainstay of treatment. Your child may have a transfusion every two to four weeks. We provide this treatment in our pleasant pediatric outpatient infusion centers and ensure your child's comfort during your visit with us.
Chelation therapies are medications used to prevent and treat "iron overload," a potential complication of blood transfusions in people with thalassemia. These medicines, such as deferasirox and deferiprone, are taken by mouth and help remove excess iron from the blood and organs. We provide support for families of patients receiving chelation therapies at home.
Stem cell transplantation involves the replacement of abnormal blood-forming stem cells with healthy stem cells from a matched donor to help the patient produce normal red blood cells. We have years of expertise in this lengthy and complex treatment regimen and provide all of the services your child needs to achieve the best outcome.
Gene therapy is an investigational treatment being assessed in clinical trials. It involves inserting a normal beta-globin gene into stem cells in the bone marrow. This treatment would allow people with beta-thalassemia to make their own healthy red blood cells and hemoglobin.
Why Choose Us
Thanks to advances in treatment, people with thalassemia — which was once a fatal childhood disease — may now live well into adulthood with a near-normal quality of life: going to school, pursuing careers, having families, and leading productive lives. NewYork-Presbyterian's children's hospitals offer the most advanced thalassemia therapies through our comprehensive programs. In addition to standard treatments, Weill Cornell Medicine and Columbia University investigators are conducting research to develop and assess new treatments for blood disorders such as thalassemia. Your child may have the opportunity to participate in a clinical trial of an innovative approach, such as gene therapy. Call us today for an appointment.
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