Beta Thalassemia

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Beta thalassemia is an inherited blood disorder. This means it's passed down through a parent’s genes. It's a form of anemia. Anemia is a low red blood cell or low hemoglobin level. Hemoglobin is part of red blood cells. It carries oxygen to organs, tissues, and cells. Beta thalassemia affects the production of hemoglobin.

There are different types of thalassemia. The severity of anemia depends on the type your child has.

Causes

Beta thalassemia is caused by a defect of the gene that controls hemoglobin production. There are three types:

• Beta thalassemia major (Cooley's anemia). This is the most severe type of beta thalassemia. It's often found during the first two years of life. Children often need frequent blood transfusions. This can cause serious problems with too much iron.
• Beta thalassemia intermedia. This type of thalassemia is common throughout the world. It results from the abnormal hemoglobin within the red blood cells. Because it is a less severe type, it is often found at a later age than beta thalassemia major. Transfusions are usually not needed.
• Thalassemia minor or thalassemia trait. These are the carriers of beta thalassemia.

Children Who Are at Risk for Beta Thalassemia

Depending on the type of thalassemia a parent has, that person's children have different chances that they will also have the disorder or be a carrier for it. It's important for carriers of the thalassemia gene to know how their children may be affected. They should talk with a doctor.

The gene defect that causes beta thalassemia is more common in the following people:

• Greek
• Italian
• Middle Eastern
• South Asian
• African

Symptoms

The symptoms of beta thalassemia major occur when an infant is between 6 and 24 months. They include:

• Poor growth and development.
• Pale skin.
• Feeding problems.
• Diarrhea.
• Irritability, fussiness.
• Fevers.
• Enlarged abdomen from enlarged spleen.
• Dark urine.
• Jaundice, or yellowing of the eyes and skin.

The symptoms of beta thalassemia intermedia happen at a later age and may include:

• Pale or yellow skin.
• Gallstones.
• Enlarged liver and spleen.
• Bone changes.
• Leg ulcers or sores.
• Soft bones.

Children with beta thalassemia minor may have mild anemia, but they often do not have symptoms.

Diagnosis

The doctor will ask about your child’s symptoms and health history. They will give your child a physical exam. Your child may also have blood and genetic tests, such as:

• Complete blood count. A complete blood count checks the red and white blood cells, blood clotting cells (platelets), and sometimes, young red blood cells. It includes hemoglobin and hematocrit and more details about the red blood cells.
• Peripheral smear. A small sample of blood is checked under a microscope to see if the cells look abnormal.
• Hemoglobin electrophoresis. This test measures the types and amount of hemoglobin.
• Iron studies. These studies check for iron deficiency anemia. This condition may be confused with beta thalassemia.
• DNA testing. These tests look for gene defects. DNA testing can find out whether it is alpha or beta thalassemia.

Treatment

Treatment will depend on your child’s symptoms, age, and general health. It will also depend on how bad the condition is.

Your child's doctor will likely send your child to a hematologist. This is an expert in blood disorders. Treatment for beta thalassemia depends on the type. Your child may have to take daily doses of folic acid, a vitamin needed to make hemoglobin. Treatment may also include:

• For beta thalassemia major:
  • Regular blood transfusions (your child gets healthy blood from a donor)
  • Medicines (to cut the amount of iron in the body, called chelation therapy)
  • Stem cell or cord blood transplant
  • Other therapies under study, including gene therapy
• For beta thalassemia intermedia:
  • Possible blood transfusions
  • Possible removal of the spleen
• For beta thalassemia minor:
  • No treatment is needed

Possible Complications

Problems from frequent transfusions may happen when a child is about 10 or 11 years old. They are from having too much iron. The complications include:

• Delayed growth and development, including sexual development.
• Heart, liver, and spleen problems.
• Endocrine system problems (for example, diabetes or thyroid problems).
• Blood clots.
• Osteoporosis.
• Children with beta thalassemia intermedia may also have complications from too much iron.

Living With Beta Thalassemia

The ongoing care of your child should include:

• Regular physical exams.
• Regular blood work.
• Taking medicines as prescribed.
• Not taking iron supplements.

Talk with your doctor about genetic counseling.

Call Your Child's Doctor

Each child's symptoms and treatment are different. Make sure you understand your child's symptoms and treatment, including possible side effects. Contact your child's doctor if you notice any changes or have questions. For example, call the doctor if any of the following occur:

• Slowed growth or development
• Feeding problems
• Fussiness
• Fevers