Symptoms

Symptoms

The signs and symptoms of alpha thalassemia vary depending on the type that a child has and how severe it is. Children with alpha thalassemia trait have no symptoms at all.
Some of the more common symptoms of alpha 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

Diagnosis

In most cases, alpha thalassemia is diagnosed before a child's second birthday or through a blood test given when the child is first born. Children with alpha thalassemia major may have a swollen abdomen or symptoms of anemia or failure to thrive.
If the doctor suspects alpha 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, or 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, evaluate hemoglobin, and test a child's DNA for abnormal hemoglobin genes.
If both parents are carriers of the alpha 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

Treatment

The amount of treatment that alpha thalassemia requires depends on how severe the symptoms are. For many children with alpha thalassemia trait, whose only symptom is mild anemia from time to time, no medical treatment is necessary.
However, the blood counts in alpha 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 alpha 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 hemoglobin H disease to help the body make new red blood cells. In addition, these kids may require an occasional blood transfusion, particularly after surgery.
Less commonly, children with severe cases of hemoglobin H disease 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.
Currently, the only cure for thalassemia is a procedure called a bone marrow transplant. Bone marrow, which is found inside bones, produces blood cells. In a bone marrow transplant, a person is 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.
Because living with alpha thalassemia can be challenging, people who are carriers of alpha thalassemia trait may want to seek genetic counseling if they're considering having children.
If your child has alpha thalassemia, support groups are available to help your family cope with the obstacles presented by the disease.

Reviewed by: Robin Miller, MD
Date reviewed: February 2012