Symptoms

• Fatigue
• Weakness
• Shortness of breath
• Pale appearance
• Irritability
• Yellow discoloration of skin (jaundice)
• Facial bone deformities
• Slow growth
• Abdominal swelling
• Dark urine

Causes

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.

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.

Alpha-thalassemia Four genes are involved in making the alpha hemoglobin chain. You get two from each of your parents. If you inherit:

• One mutated gene, you'll have no signs or symptoms of thalassemia. But, you're a carrier of the disease and can pass it on to your children.
• Two mutated genes, your thalassemia signs and symptoms will be mild. This condition may be called alpha-thalassemia minor, or you may be told you have an alpha-thalassemia trait.
• Three mutated genes, your signs and symptoms will be moderate to severe. This condition is also called hemoglobin H disease.
• Four mutated genes, the condition is called alpha-thalassemia major or hydrops fetalis. It usually causes a fetus to die before delivery or a newborn to die shortly after birth.

Beta-thalassemia Two genes are involved in making the beta hemoglobin chain. You get one from each of your parents. If you inherit:

• One mutated gene, you'll have mild signs and symptoms. This condition is called beta-thalassemia minor or referred to as a beta-thalassemia trait.
• Two mutated genes, your signs and symptoms will be moderate to severe. This condition is called beta-thalassemia major or Cooley's 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.

Risk factors

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 people of Italian, Greek, Middle Eastern, Asian and African ancestry.

Complications

Possible complications of thalassemia include:

• Iron overload. People with thalassemia can get too much iron in their bodies, either from the disease itself or from frequent blood transfusions. Too much iron can result in damage to your heart, liver and endocrine system, which includes glands that produce hormones 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, making your spleen work harder than normal, causing it to enlarge. Splenomegaly can make anemia worse, and it can reduce the life of transfused red blood cells. If your spleen grows too big, it may need to be removed.
• Slowed growth rates. Anemia can cause a child's growth to slow. Puberty also may be delayed in children with thalassemia.
• Heart problems. Heart problems, such as congestive heart failure and abnormal heart rhythms (arrhythmias), may be associated with severe thalassemia.

Appointment

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).

Because appointments can be brief, and there's often a lot of ground to cover, it's a good idea to be well prepared. Here's some information to help you get ready, and what to expect from your doctor.

What you can do

• Write down any symptoms you or your child are experiencing, including any that may seem unrelated to the reason for which you scheduled the appointment.
• Write down 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 they have.
• Make a list of all medications, vitamins and supplements that you're taking.
• Write down questions to ask your doctor.

Your time with your doctor may be limited, so preparing a list of questions can help you make the most of your time together. List your questions from most important to least important in case time runs out. For thalassemia, some basic questions to ask your doctor include:

• What's the most likely cause of my or 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?
• I (or my child) have these other health conditions. How can they best be managed together?
• Are there any dietary restrictions to follow? Do I (or my child) need to take any nutritional supplements?
• Are there any brochures or other printed material that I can take? What websites do you recommend?

In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask questions during your appointment anytime you don't understand something.

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 begin experiencing symptoms?
• Have your symptoms been continuous, or occasional?
• How severe are your symptoms?
• Does anything seem to improve your symptoms?
• What, if anything, appears to worsen your symptoms?

Tests and diagnosis

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

Prenatal testing 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:

• 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 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 and drugs

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.

Treatment 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 used to treat severe thalassemia in select cases. Prior to a stem cell transplant, you receive very high doses of drugs or radiation to destroy your diseased bone marrow. Then you receive infusions of stem cells from a compatible donor. 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 donor available — usually a sibling.

Home remedies

If you have thalassemia, be sure to:

• 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 may also 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 and support

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.

Prevention

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.