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Diagnosis & Treatment

Thalassemia

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How is Thalassemia Diagnosed?

Diagnosis

Thalassemia diagnosis depends on the type of thalassemia your child has. It may be picked up during a routine blood test if they don’t have symptoms. More severe types of thalassemia usually cause symptoms that appear before the age of two.

The following blood and genetic tests can help diagnose thalassemia:

  • Complete blood count (CBC). This test measures the amount of hemoglobin and different types of blood cells, like red blood cells, in your blood. People who have thalassemia have smaller red blood cells that may look diseased under a microscope. They also have less hemoglobin than normal.
  • Hemoglobin electrophoresis. This test analyzes the different types of hemoglobin in your red blood cells.
  • Genetic testing. These blood tests look for gene mutations to find out what specific type of thalassemia your child has.
  • Carrier testing. You and your partner can have a genetic screening test for thalassemia to see if they carry a mutated gene before they plan to have children.
  • Prenatal testing. If both you and your partner are carriers for thalassemia, your doctor can check the fetus by either chronic villus sampling (CVS), done at around eight to 11 weeks into the pregnancy, or an amniocentesis, done about 16 weeks into the pregnancy.

How is Thalassemia Treated?

Treatment

Treatment for thalassemia depends on the severity of the disease. If your child is a carrier, this does not require treatment. Individuals with thalassemia intermedia will need close follow-up but may not require much treatment unless complications do develop. Thalassemia major has the most severe complications and always needs intervention, treatment, monitoring, and follow-up.

At NewYork-Presbyterian, we customize thalassemia treatment based on the type and severity of the condition. Here are some of the options:

Blood transfusions

Blood transfusions boost your red blood cell count and are the mainstay of thalassemia treatment. We provide this treatment in our pleasant pediatric outpatient infusion centers and ensure your child’s comfort during your visit with us. If your child has hemoglobin H disease or beta thalassemia intermedia, they may only require occasional blood transfusions. If they have beta thalassemia major, they may need one every two to four weeks.

Iron chelation therapy

If your child receives regular blood transfusions, they may experience iron buildup, which can be dangerous. To prevent this, doctors use one of three medications to remove excess iron from the body. These include:

  • Defaerasirox, a pill taken once a day
  • Deferiprone, also a pill but taken twice or three times a day. This is used if deferasirox is not tolerated or if the iron overload is severe and a combination treatment is needed.
  • Deferoxamine. This is a liquid medicine that is usually given through a needle under the skin via a small portable pump overnight.

NewYork-Presbyterian provides support for families of patients who receive chelation therapies at home.

Stem cell transplantation

Stem cell transplantation replaces abnormal blood-forming stem cells with healthy stem cells from a matched donor to help the patient produce normal red blood cells. It is the only treatment that can cure thalassemia. Only a small number of people can find a good donor match. NewYork-Presbyterian has years of experience in this lengthy and complex treatment regimen. We provide all of the services your child needs to achieve the best outcome.

Gene therapy

During gene therapy, a normal beta-globin gene is inserted into stem cells in the bone marrow. This treatment allows people with beta-thalassemia to make their own healthy red blood cells and hemoglobin. It’s an investigational treatment only available through clinical trials at sites such as NewYork-Presbyterian.

FAQs

FAQs

Thalassemia causes a type of anemia known as hemolytic anemia. Normally, your body constantly makes new red blood cells to replace the ones that die. But in hemolytic anemia, your body can’t make enough hemoglobin to keep up.

About 300,000 to 400,000 infants with severe alpha thalassemia disease are born every year, mainly in Asia, India, and the Middle East. About one in 100,000 people worldwide have symptoms of beta thalassemia. It’s more common in the Mediterranean, Middle East, Africa, central Asia, India, and the Far East.

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Trust NewYork-Presbyterian for Thalassemia Treatment

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. It’s important to know the symptoms and types of thalassemia, so you can pursue the best treatment for your child.