The thalassemias are a group of inherited blood disorders in which the genes that produce hemoglobin, the protein in red blood cells that carries oxygen from the lungs to all parts of the body, are broken. As a result, the red blood cells do not contain enough hemoglobin, causing anemia that can range from mild to life threatening. Thalassemia can come in different forms depending on the genetic mutations causing it. The transfusion-dependent form, also called thalassemia major or Cooley’s Anemia, requires lifelong follow-up care and regular blood transfusions. Some other forms are more readily managed and may require little or no treatment.
At the Dana-Farber/Boston Children’s Thalassemia Program, our experts provide comprehensive care for children and adults with all forms of thalassemia. 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:
Learn more about the thalassemias and treatment options below.
thalassemias are a group of inherited blood disorders in which the genes that
produce hemoglobin, the protein in red blood cells that carries oxygen from the
lungs to all parts of the body, are broken.
is made up of four parts—two alpha globin proteins and two beta globin proteins—each
produced according to the instructions carried in different genes. Thalassemia results
when one or more of these genes is defective or missing. Globin proteins work
in connection with heme and iron to carry oxygen.
classify forms of thalassemias based on the globin genes involved:
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.
thalassemias can also be classified by clinical severity:
Transfusion dependent thalassemia can be further divided
severity of the disease depends on the type of thalassemia, ranging from no
treatment to lifelong care with frequent blood transfusions
and ongoing chelation therapy to remove the excess iron that builds up in the
blood from these transfusions.
of thalassemia depend on the clinical severity of the disease and the therapies
employed to treat it. Each child may experience symptoms differently. Patients
with thalassemia trait generally do not experience any symptoms.
primary signs and symptoms of Cooley’s anemia in infancy, before diagnosis, are
those of severe anemia. Later in
childhood and adulthood, transfusion dependent thalassemia symptoms are generally
the result of iron overload, a byproduct of the frequent blood transfusions
patients with this form of thalassemia require.
with transfusion dependent thalassemia do not typically experience
severe anemia once they have started receiving regular transfusion. Without these transfusions, however, they can
develop life-threatening anemia.
of iron overload may include:
most common symptoms of non-transfusion dependent thalassemia are related to
diagnosis of thalassemia is made after tests to discover which type of
thalassemia a child might have. Those tests include:
those tests are complete, doctors will be able to outline the best treatment
Treating children with
thalassemia is a multidisciplinary effort, including specialists in hematology
and transfusion medicine as well as cardiologists, endocrinologists,
gastroenterologists, audiologists, ophthalmologists, infectious disease
specialists, geneticists and genetic counselors as necessary.
for thalassemia depends on the severity of the disorder. If your child has
transfusion dependent thalassemia, she will require life-long, ongoing medical
care, which may include:
general, children with non-transfusion dependent thalassemia experience less
severe symptoms. They need regular medical follow-up, but may not require
frequent blood transfusions.
Children's is involved in a number of research initiatives aimed at improving
thalassemia care including:
many children with rare or hard-to-treat conditions, clinical trials provide
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