Symptoms
The signs and symptoms of beta thalassemia vary depending on the type that a child has. Most children with beta thalassemia trait have no symptoms. Those with beta thalassemia major and intermedia may not show any symptoms at birth, but usually develop them in the first 2 years of life.
Some of the more common symptoms of beta thalassemia include:
- fatigue, weakness, or shortness of breath
- a pale appearance or a yellow color to the skin (jaundice)
- irritability
- deformities of the facial bones
- slow growth
- a swollen abdomen
- dark urine
Babies who begin to show symptoms of beta thalassemia after a few healthy months may fail to grow normally (failure to thrive); have trouble feeding; and have episodes of fever, diarrhea, and other intestinal problems.
Diagnosis
In most cases, beta thalassemia is diagnosed before a child's second birthday. Children with beta thalassemia major may have a swollen abdomen or symptoms of anemia or failure to thrive.
If the doctor suspects beta thalassemia, he or she will take a blood sample for testing. Blood tests can reveal red blood cells that are pale, varied in shape and size, and smaller than normal. They also can detect low red blood cell counts and cells with an uneven distribution of hemoglobin, which causes them to look like a bull's-eye when seen through a microscope.
Blood tests also can measure the amount of iron in the blood. Usually the diagnosis is confirmed by a blood test called a hemoglobin electrophoresis and/or a DNA test for abnormal hemoglobin genes.
If both parents are carriers of the beta thalassemia disorder, doctors can conduct tests on a fetus before birth. This is done through either:
- chorionic vilius sampling, which takes place about 11 weeks into pregnancy and involves removing a tiny piece of the placenta for testing
- amniocentesis, which is usually done about 16 weeks into the pregnancy and involves removing a sample of the fluid that surrounds the fetus
If one parent carries a beta thalassemia gene and the other carries a different gene that also affects beta globin, such as a sickle gene, their child could have a significant blood disorder (such as a form of sickle cell disease called sickle-beta thalassemia). Therefore, people who carry beta thalassemia genes should seek genetic counseling if they're considering having children so they can understand the risks.
Treatment
The amount of treatment that beta thalassemia requires depends on how severe the symptoms are. For most children with beta thalassemia trait, whose only symptom may be mild anemia from time to time, no medical treatment will be necessary.
However, the blood counts in beta thalassemia trait look a lot like the blood counts in iron deficiency anemia, which is a very common disorder. It's important for doctors to know when children have beta thalassemia trait so that they do not treat them with iron if it's not needed.
Doctors also might recommend a folic acid supplement for kids with moderate cases of anemia to help boost production of new red blood cells.
Some children with moderate anemia may require an occasional blood transfusion, particularly after surgery. Those with severe cases of beta thalassemia major, on the other hand, may require regular blood transfusions their entire lives to keep them healthy. During blood transfusions, they're given blood from donors with matching blood types. Over time, this can cause a build-up of iron in the body, so kids who receive frequent blood transfusions may have to take medications to remove excess iron from their bodies.
Research into treating beta thalassemia with experimental gene therapies is ongoing. But for now, it can only be cured by a procedure called a bone marrow transplant (also called a stem cell transplant). Bone marrow, which is found inside bones, produces blood cells. In a bone marrow transplant, children are first given high doses of radiation or drugs to destroy the defective bone marrow. The bone marrow is then replaced with cells from a compatible donor, usually a healthy sibling or other relative. Bone marrow transplants carry many risks, so they usually are done only in the most severe cases of thalassemia.
If your child has beta thalassemia, support groups are available to help your family cope with the obstacles presented by the disease.