Thalassemia (Mediterranean anemia) is an inherited blood disorder characterized by less hemoglobin and fewer red blood cells in your body than normal. Hemoglobin is the substance in your red blood cells that allows these cells 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, such as eating a good diet, to help boost your energy.
Complications of Thalassemia
Possible complications of thalassemia include:
In cases of severe thalassemia, the following complications can occur:
Causes of Thalassemia
The cause of thalassemia is defects in the genes that make hemoglobin. The only way to get thalassemia is to inherit one or more defective hemoglobin genes from your parents. Hemoglobin is a red, iron-rich protein found in red blood cells. Hemoglobin enables red blood cells to carry oxygen from your lungs to all parts of your body and to carry carbon dioxide from other parts of your body to your lungs so that it can be exhaled. Most blood cells, including red blood cells, are produced regularly in your bone marrow — a red, spongy material found within the cavities of many of your large bones. Thalassemia disrupts the normal production of hemoglobin and leads to a low level of hemoglobin 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. There are two major types of thalassemia: alpha and beta, named for the two protein chains that make up normal hemoglobin. The type of thalassemia you have depends on the type of defective gene you inherit.
Four genes are involved in making the alpha hemoglobin chain. You get two from each of your parents. If one or more of the alpha hemoglobin genes are defective, you develop alpha-thalassemia.
The more defective genes you have, the more severe your alpha-thalassemia:
Two genes are involved in making the beta hemoglobin chain. You get one from each of your parents. If one or both of the beta hemoglobin genes are defective, you develop beta-thalassemia.
Signs & Symptoms of Thalassemia
Signs and symptoms of thalassemia include:
The signs and symptoms you experience depend on your type and severity of thalassemia. Some babies show signs and symptoms of thalassemia at birth, while others may develop signs or symptoms later, during the first two years of life. Some people who have only one affected hemoglobin gene don't experience any thalassemia symptoms.
Diagnosis of Thalassemia
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 he or she has thalassemia and determine how severe it may be. Tests used to diagnose thalassemia in unborn babies include:
Assisted reproductive technology
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.
Treatments of Thalassemia
Treatment for thalassemia depends on which type you have and how severe it is.
Treatments for mild thalassemia
Signs and symptoms are usually mild with thalassemia minor and little, if any, treatment is needed. Occasionally, you may need a blood transfusion, particularly after surgery, after having a baby or if you develop an infection.
Treatment for moderate to severe thalassemia
These more severe forms of thalassemia often require frequent blood transfusions, possibly eight or more each year. Over time, blood transfusions cause a buildup of iron in your blood, which can damage your heart, liver and other organs. To help your body get rid of the extra iron, you may need to take medications known as "iron chelators." These medications may be given as a pill or as an infusion under your skin (subcutaneous).
In some cases, a bone marrow transplant or a stem cell transplant may be used to treat severe thalassemia. However, because these procedures have serious risks, including death, they're generally reserved for people with the most severe disease who have a well-matched sibling donor available.
Prevention of Thalassemia
In most cases, thalassemia cannot 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.
When to seek Medical Advice
Make an appointment with your child's doctor for an evaluation if he or she has any of the following signs or symptoms of thalassemia: