Thalassemia (thal-uh-SEE-me-uh) is an inherited blood disorder characterized by less hemoglobin and fewer red blood cells in your body than normal. Several types of thalassemia exist, including alpha-thalassemia, beta-thalassemia intermedia, Cooley's anemia and Mediterranean anemia.
Hemoglobin is the substance in your red blood cells that allows them to carry oxygen. The low hemoglobin and fewer red blood cells of thalassemia may cause anemia, leaving you fatigued.
If you have mild thalassemia, you may not need treatment. But, if you have a more severe form of thalassemia, you may need regular blood transfusions. You can also take steps on your own to cope with fatigue, such as choosing a healthy diet and exercising regularly.
Thalassemia symptoms include:
The signs and symptoms you experience depend on the type and severity of thalassemia you have. Some babies show signs and symptoms of thalassemia at birth, while others may develop signs or symptoms during the first two years of life. Some people who have only one affected hemoglobin gene don't experience any thalassemia symptoms.
Make an appointment with your child's doctor for an evaluation if he or she has any signs or symptoms that worry you.
Thalassemia is caused by mutations in the DNA of cells that make hemoglobin — the substance in your red blood cells that carries oxygen throughout your body. The mutations associated with thalassemia are passed from parents to children.
The mutations that cause thalassemia disrupt the normal production of hemoglobin and cause low hemoglobin levels and a high rate of red blood cell destruction, causing anemia. When you're anemic, your blood doesn't have enough red blood cells to carry oxygen to your tissues — leaving you fatigued.
The type of thalassemia you have depends on the number of gene mutations you inherit from your parents and which part of the hemoglobin molecule is affected by the mutations. The more mutated genes, the more severe your thalassemia. Hemoglobin molecules are made of alpha and beta parts that can be affected by mutations.
Four genes are involved in making the alpha hemoglobin chain. You get two from each of your parents. If you inherit:
Two genes are involved in making the beta hemoglobin chain. You get one from each of your parents. If you inherit:
Most children with moderate to severe thalassemia show signs and symptoms within their first two years of life. If your doctor suspects your child has thalassemia, he or she may confirm a diagnosis using blood tests.
If your child has thalassemia, blood tests may reveal:
Blood tests may also be used to:
Testing can be done before a baby is born to find out if it has thalassemia and determine how severe it may be. Tests used to diagnose thalassemia in fetuses include:
A form of assisted reproductive technology that combines pre-implantation genetic diagnosis with in vitro fertilization may help parents who have thalassemia or who are carriers of a defective hemoglobin gene give birth to healthy babies. The procedure involves retrieving mature eggs from a woman and fertilizing them with a man's sperm in a dish in a laboratory. The embryos are tested for the defective genes, and only those without genetic defects are implanted in the woman.
Possible complications of thalassemia include:
In cases of severe thalassemia, the following complications can occur:
In most cases, thalassemia can't be prevented. If you have thalassemia, or if you carry a thalassemia gene, consider talking with a genetic counselor for guidance before you have or father a child.
If you have thalassemia, be sure to:
Coping with thalassemia can be challenging. But, you don't have to do it alone. If you have questions or would like guidance, talk with a member of your health care team. You may also benefit from joining a support group. Such a group can provide both sympathetic listening and useful information. To find out about support groups in your area that deal with thalassemia, ask your doctor or contact the Cooley's Anemia Foundation at 800-522-7222.
Factors that increase your risk of thalassemia include: