What is thalassemia?
Thalassemia (say: “thal-uh-SEE-mee-uh”) is a name for a group of inherited blood disorders. When you have thalassemia, your body makes fewer red blood cells and less hemoglobin than normal. Hemoglobin is an iron-rich protein in red blood cells. It allows the red blood cells to carry oxygen from your lungs to the rest of your body. Having not enough red blood cell hemoglobin is anemia. Anemia interferes with your body’s ability to move oxygen from your lungs to all of your organs and limbs.
What are the symptoms of thalassemia?
Thalassemia symptoms depend on the type of thalassemia you have and how severe the anemia becomes. Some people have little or even no symptoms. Other people have mild to severe symptoms. Symptoms of thalassemia may include one or more of the following:
Children who are born with thalassemia may show signs of the disease right away, or symptoms may appear later. Most signs and symptoms usually show up within the first 2 years of life. If your child has delayed growth, it’s important to find out if he or she might have thalassemia. Untreated thalassemia can cause heart failure and infection.
- Tiredness, low energy, or muscle weakness (also called fatigue)
- Lightheadedness or shortness of breath
- Lack of appetite
- Dark urine
- Jaundice (yellowing of the skin and the whites of the eyes)
- In children, slow growth and delayed puberty
- Bone deformities in the face
- Abdominal swelling
Causes & Risk Factors
What causes thalassemia?
You get thalassemia when you inherit gene mutations from one or both parents. These gene mutations cause you to lose red blood cells at a higher than normal rate and cause you to produce less hemoglobin.
The type of thalassemia you have depends on which mutated genes you inherit from your parents, and how many genes you inherit. There are 2 main types of thalassemia: alpha thalassemia and beta thalassemia. These are named after alpha-globin and beta-globin, the proteins that make up normal hemoglobin.
- Alpha thalassemia: This type of thalassemia involves 4 genes (you get 2 of these genes from your mother and 2 of these genes from your father). If you only get 1 mutated gene, you will have no signs or symptoms of thalassemia, but you can still pass on the gene mutation to your children (this is called being a “carrier”. If you get 2 mutated genes, you will have mild symptoms. If you get 3, you’ll have moderate to severe symptoms. A baby who inherits all 4 mutated genes will be very sick, and probably won’t live long after birth.
- Beta thalassemia: This type of thalassemia involves 2 genes (you get 1 gene from your mother and 1 gene from your father). If you get only 1 mutated gene, you’ll have mild signs or symptoms of thalassemia. If you get 2 mutated genes, you’ll have moderate to severe symptoms that usually develop in the first 2 years of life.
Who is at risk for thalassemia?
You are at risk for thalassemia if you have a family history of it. Thalassemia can affect both men and women. Certain ethnic groups are at greater risk:
- Alpha thalassemia most often affects people who are of Southeast Asian, Indian, Chinese, or Filipino descent.
- Beta thalassemia most often affects people who are of Mediterranean (Greek, Italian and Middle Eastern), Asian, or African descent.
Diagnosis & Tests
How is thalassemia diagnosed?
If your doctor thinks you or your child might have thalassemia, he’ll do a physical exam and ask about your medical history. Thalassemia can only be diagnosed with blood tests. Doctors use several different types of blood tests to look for thalassemia. Some tests measure the number and size of red blood cells, or the amount of iron in the blood. Others look at the hemoglobin within the red blood cells. DNA testing helps doctors identify which genes are missing or damaged.
Treatment for thalassemia depends on which type of thalassemia you have and the severity of your symptoms. If you have no or only mild symptoms, you may need little or no treatment.Treatment for moderate to severe forms of thalassemia often includes regular blood transfusions and folate supplements. Folate (also called folic acid) helps your body make healthy blood cells. Alpha thalassemia can sometimes be mistaken for low-iron anemia, and iron supplements may be recommended as a treatment. But iron supplements have no effect on thalassemia.If you have many blood transfusions, too much iron may build up in your blood. If this happens, you will need chelation (say: “key-LAY-shun”) therapy to remove extra iron from your body. You shouldn’t take iron supplements if you receive blood transfusions.In the most severe cases, bone marrow or stem cell transplants may help by replacing damaged cells with healthy ones from a donor (usually a relative such as a brother or sister).
How can I cope with thalassemia?
Although you can’t prevent inheriting thalassemia, you can manage the disease so you can have the best quality of life possible. Key steps include:
- Follow your treatment plan. Get blood transfusions as often as your doctor recommends. Make sure to take your iron chelation medicine and/or folic acid supplements.
- Get ongoing medical care. Have regular medical checkups and get the medical tests your doctor suggests. These may include tests relating to thalassemia, as well as your overall health. Be sure to get any vaccinations for flu, pneumonia, hepatitis B and meningitis that your doctor recommends.
- Take care of yourself. Follow a healthy eating plan. Lower your chance of getting an infection by washing your hands often, and avoiding crowds during flu and cold season. Keep the area around your transfusion site clean. Call your doctor if you develop a fever or other signs of infection.
- Look for information and support. Join a support group or talk with others who have the disease to learn coping strategies. Be sure to discuss any changes in your treatment plan with your doctor.
What are the complications of thalassemia?
Thalassemia can lead to other health problems:
- An enlarged spleen. Your spleen helps your body fight infections and filters out damaged blood cells. If you have thalassemia, your spleen may have to work harder than normal, which can cause it to enlarge. If your spleen becomes too large, it may have to be removed.
- Infections. People who have thalassemia are more likely to get blood infections, especially if they have a lot of blood transfusions. Some types of infection can be worse if you’ve had your spleen removed.
- Bone problems. Thalassemia can cause bone deformities in the face and skull. People who have thalassemia may also have severe osteoporosis (brittle bones).
- Too much iron in your blood. This can cause damage to the heart, liver, or endocrine system (glands in the body that make hormones, like the thyroid gland and adrenal glands).
What should I do if I’m a carrier of thalassemia and I want to get pregnant?
What should I do if I’m a carrier of thalassemia and I want to get pregnant?
Some severe types of thalassemia can cause babies to die before they are born or soon after. If you or your partner knows you are a carrier for thalassemia, you may want to talk to your doctor or a genetic counselor before getting pregnant. Certain tests may be able to show which type of thalassemia you are carrying. Once you are pregnant, prenatal testing can show whether or not your baby has thalassemia.
Questions to Ask Your Doctor
- My parent had thalassemia. Am I at risk too?
- What are the symptoms of thalassemia?
- How is thalassemia treated? Is there a cure?
- How do I know if my condition is getting worse?
- Can I pass thalassemia on to my child?
- What are the risks and benefits of genetic counseling?
Copyright © American Academy of Family Physicians
This information provides a general overview and may not apply to everyone. Talk to your family doctor to find out if this information applies to you and to get more information on this subject.