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. 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 the disorder, 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 signs and symptoms may include:
- Pale or yellowish skin
- Facial bone deformities
- Slow growth
- Abdominal swelling
- Dark urine
Several types of thalassemia exist, including alpha-thalassemia, thalassemia intermedia and Cooley anemia. The signs and symptoms you experience depend on the type and severity of your condition. Some babies show signs and symptoms of thalassemia at birth, while others may develop them during the first two years of life. Some people who have only one affected hemoglobin gene don't experience any thalassemia symptoms.
When to see a doctor
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.
Thalassemia disrupts the normal production of hemoglobin and healthy red blood cells. This causes anemia. With anemia, your blood doesn't have enough red blood cells to carry oxygen to your tissues — leaving you fatigued.
Types of thalassemia
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:
- 1 mutated gene, you'll have no signs or symptoms of thalassemia. But you are a carrier of the disease and can pass it on to your children.
- 2 mutated genes, your thalassemia signs and symptoms will be mild. This condition may be called alpha-thalassemia trait.
- 3 mutated genes, your signs and symptoms will be moderate to severe.
- 4 mutated genes. This type is rare. Affected fetuses have severe anemia and usually are stillborn. Babies born with this condition often die shortly after birth or require lifelong transfusion therapy. In rare cases, a child born with this condition may be treated with transfusions and a stem cell transplant, which is also called a bone marrow transplant.
Two genes are involved in making the beta hemoglobin chain. You get one from each of your parents. If you inherit:
- 1 mutated gene, you'll have mild signs and symptoms. This condition is called thalassemia minor or beta-thalassemia.
- 2 mutated genes, your signs and symptoms will be moderate to severe. This condition is called thalassemia major, or Cooley anemia. Babies born with two defective beta hemoglobin genes usually are healthy at birth but develop signs and symptoms within the first two years of life. A milder form, called thalassemia intermedia, also may occur with two mutated genes.
Factors that increase your risk of thalassemia include:
- Family history of thalassemia. Thalassemia is passed from parents to children through mutated hemoglobin genes. If you have a family history of thalassemia, you may have an increased risk of the condition.
- Certain ancestry. Thalassemia occurs most often in African-Americans and in people of Mediterranean and Southeast Asian ancestry.
Possible complications of thalassemia include:
- Iron overload. People with thalassemia can get too much iron in their bodies, either from the disease or from frequent blood transfusions. Too much iron can result in damage to your heart, liver and endocrine system. This system includes hormone-producing glands that regulate processes throughout your body.
- Infection. People with thalassemia have an increased risk of infection. This is especially true if you've had your spleen removed.
In cases of severe thalassemia, the following complications can occur:
- Bone deformities. Thalassemia can make your bone marrow expand, which causes your bones to widen. This can result in abnormal bone structure, especially in your face and skull. Bone marrow expansion also makes bones thin and brittle, increasing the chance of broken bones.
- Enlarged spleen (splenomegaly). The spleen helps your body fight infection and filter unwanted material, such as old or damaged blood cells. Thalassemia is often accompanied by the destruction of a large number of red blood cells. This causes your spleen to enlarge and work harder than normal. Splenomegaly can make anemia worse, and it can reduce the life of transfused red blood cells. If your spleen grows too big, your doctor may suggest surgery to remove it (splenectomy).
- Slowed growth rates. Anemia can cause a child's growth to slow. And thalassemia may cause a delay in puberty.
- Heart problems. Heart problems — such as congestive heart failure and abnormal heart rhythms (arrhythmias) — may be associated with severe thalassemia.
In most cases, you can't prevent thalassemia. If you have thalassemia, or if you carry a thalassemia gene, consider talking with a genetic counselor for guidance if you're thinking of having children.
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:
- A low level of red blood cells
- Smaller than expected red blood cells
- Pale red blood cells
- Red blood cells that are varied in size and shape
- Red blood cells with uneven hemoglobin distribution, which gives the cells a bull's-eye appearance under the microscope
Blood tests may also be used to:
- Measure the amount of iron in your child's blood
- Evaluate his or her hemoglobin
- Perform DNA analysis to diagnose thalassemia or to determine if a person is carrying mutated hemoglobin genes
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 fetuses include:
- Chorionic villus sampling. This test is usually done around the 11th week of pregnancy and involves removing a tiny piece of the placenta for evaluation.
- Amniocentesis. This test is usually done around the 16th week of pregnancy and involves taking a sample of the fluid that surrounds the fetus.
Assisted reproductive technology
A form of assisted reproductive technology that combines preimplantation 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 and fertilizing them with sperm in a dish in a laboratory. The embryos are tested for the defective genes, and only those without genetic defects are implanted into the uterus.
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 to help manage thalassemia complications.
People with severe beta-thalassemia will need blood transfusions. And because this treatment can cause iron overload, they will also need treatment to remove excess iron. An oral medication called deferasirox (Exjade, Jadenu) can help remove the excess iron.
Treatments for moderate to severe thalassemia
Treatments for moderate to severe thalassemia may include:
- Frequent blood transfusions. More-severe forms of thalassemia often require frequent blood transfusions, possibly every few weeks. 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 that rid your body of extra iron.
Stem cell transplant. Also called a bone marrow transplant, a stem cell transplant may be an option in select cases, including children born with severe thalassemia. It can eliminate the need for lifelong blood transfusions and drugs to control iron overload.
During this procedure, you receive infusions of stem cells from a compatible donor, usually a sibling.
You can help manage your thalassemia by following your treatment plan and adopting healthy-living habits. The following tips will help:
- Avoid excess iron. Unless your doctor recommends it, don't take vitamins or other supplements that contain iron.
- Eat a healthy diet. Eating a balanced diet that contains plenty of nutritious foods can help you feel better and boost your energy. Your doctor also may recommend you take a folic acid supplement to help your body make new red blood cells. Also, to keep your bones healthy, make sure your diet contains adequate calcium and vitamin D. Ask your doctor what the right amounts are for you and whether you need to take a supplement.
- Avoid infections. Protect yourself from infections with frequent hand-washing and by avoiding sick people. This is especially important if you've had to have your spleen removed. You'll also need an annual flu shot, as well as the meningitis, pneumococcal and hepatitis B vaccines to prevent infections. If you develop a fever or other signs and symptoms of an infection, see your doctor for treatment.
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 a member of your health care team.
People with moderate to severe forms of thalassemia are usually diagnosed within the first two years of life. If you've noticed some of the signs and symptoms of thalassemia in your infant or child, see your family doctor or pediatrician. You may then be referred to a doctor who specializes in blood disorders (hematologist).
Here's some information to help you get ready for your appointment.
What you can do
- List any symptoms your child is experiencing, including any that may seem unrelated to the reason for which you scheduled the appointment.
- List your child's key personal information, including any major stresses or recent life changes. Ask family members if anyone on either side of the family has ever had thalassemia, and let your doctor know if anyone has.
- List of all medications, vitamins and supplements that your child is taking, including doses.
- List questions to ask your doctor.
For thalassemia, some basic questions to ask your doctor include:
- What's the most likely cause of my child's symptoms?
- Are there other possible causes?
- What kinds of tests are needed?
- What treatments are available?
- What treatments do you recommend?
- What are the most common side effects from each treatment?
- How can this best be managed with other health conditions?
- Are there any dietary restrictions to follow? Do you recommend any nutritional supplements?
- Do you have any brochures or other printed material that I can take? What websites do you recommend?
Don't hesitate to ask additional questions that come up during your appointment.
What to expect from your doctor
Your doctor is likely to ask you a number of questions. Being ready to answer them may reserve time to go over any points you want to spend more time on. Your doctor may ask:
- Do you know if anyone in your family has thalassemia?
- In what part of the world did your family originate?
- When did you first notice your symptoms?
- Do your symptoms occur all the time or do they come and go?
- How severe are your symptoms?
- Does anything seem to improve your symptoms?
- What, if anything, appears to worsen your symptoms?