Thalassemia

Like many other genetic disorders, thalassemia occurs predominantly in certain ethnic groups. It is most common among people of Mediterranean ancestry, but also occurs among people of Southeast Asian, Middle Eastern, and Indian heritage.

Children with the form of the disease known as thalassemia major have inherited two copies of the gene responsible for a hemoglobin abnormality—one from each parent. Individuals with only one copy of the gene have a much milder form of the disease called thalassemia minor or thalassemia trait and are usually asymptomatic and can live entirely normal lives.

HOW DOES THALASSEMIA DEVELOP?
Thalassemia affects hemoglobin, the pigment molecule in red blood cells. Hemoglobin is normally composed of four building blocks, two called alpha and two called beta. In the type of thalassemia classified as beta thalassemia, there are too few beta chains, and as a result, the alpha chains are overabundant. In alpha thalassemia, the reverse occurs. Alpha thalassemia is a fatal condition.

In an attempt to compensate for the shortage of healthy red blood cells in thalassemia, the body speeds production of immature red blood cells in the bone marrow. This strategy, however, results in enlargement of the spleen, which can be quite marked.

WHEN SHOULD I SUSPECT THAT MY CHILD HAS THALASSEMIA?
Symptoms of thalassemia may not be apparent at birth but do appear in the first few months. At that time, weight gain may taper off, and the child may start to develop frequent infections. In addition, the child becomes pale and the abdomen becomes distended due to swelling of the liver and spleen.

PREVENTING THALASSEMIA
Couples with a family history of thalassemia or who know they have thalassemia minor, the mild form of the disease caused by a single defective gene, should have genetic counseling to learn more about the chance of transmitting the full-blown disease to their children. Prenatal testing is also available to identify fetuses affected by the disease.

IS MEDICAL ATTENTION NECESSARY?
Yes. Children with thalassemia major have a serious, chronic illness. Their bodies are continuously destroying their red blood cells and transfusion therapy is required. Children with thalassemia minor are in a very different situation. Their condition generally requires only periodic monitoring.

HOW CAN THE PEDIATRICIAN TELL IF MY CHILD HAS THALASSEMIA?
The diagnosis is made on the basis of blood tests that show the characteristic abnormalities of the red blood cells.

WHAT TREATMENTS ARE AVAILABLE?
For thalassemia major, treatment consists of transfusions at regular intervals to provide healthy red blood cells. After age five, some children also undergo surgical removal of the spleen. Therapy is also required to remove excess iron from the body. Iron accumulates as a result of the regular transfusions that are required.

With the help of these treatments, children with thalassemia can lead reasonably normal lives. Unfortunately, however, complications requiring further treatment often arise.

CARING FOR A CHILD WITH THALASSEMIA
Children with thalassemia major need to avoid excess dietary iron since frequent transfusions can lead to a dangerous iron buildup. Consult a registered dietitian to plan an appropriate diet and learn which foods to avoid.

Management of thalassemia major requires frequent blood tests, transfusions and tests of heart, liver and pancreas function. Children need their parents' support and understanding to cope with these procedures. At the same time, parents should avoid overprotecting such children, trying whenever possible to minimize the role of the illness in their lives.

GETTING HELP
Call your doctor if:

• You and your partner may both carry the gene that causes thalassemia

Excerpt from THE DISNEY ENCYCLOPEDIA OF BABY & CHILD CARE, © 1995 DSH Communications, Inc. This material is based on current medical research and, to the best of the editors' knowledge and understanding, is accurate and valid. However the reader should not use information contained in this material to alter a medically prescribed regimen or as a form of self-treatment, without seeking the advice of a licensed physician.