Thalassemia (thal-uh-SEE-mee-uh) is a blood disorder that is inherited. This means it is passed down from one or both parents through their genes. When you have thalassemia, your body makes less hemoglobin than normal. Hemoglobin is an iron-rich protein in red blood cells. It carries oxygen to all parts of the body.
There are two main types of thalassemia: alpha and beta. Different genes are affected for each type.
Thalassemia can cause mild or severe anemia. Anemia occurs when your body does not have enough red blood cells or hemoglobin. The severity and type of anemia depends on how many genes are affected.
Beta thalassemia is caused by damaged or missing genes. Two specific genes are involved. There are several types of this disorder:
Beta thalassemia major (Cooley’s anemia). There are two damaged genes. This is the most severe form of this disorder. People with this condition will need frequent blood transfusions. They may not live a normal lifespan.
Beta thalassemia minor or thalassemia trait. Only one gene is damaged. This causes less severe anemia. People with this type have a 50% chance of passing the gene to their children. If the other parent is not affected, their children will also have this form of the disorder. This type is further divided into:
- Thalassemia minima. There are few or no symptoms.
- Thalassemia intermedia. This causes moderate to severe anemia.
Many people with this disorder are given iron replacement by mistake. This happens when a lack of iron is believed to cause their anemia. Too much iron can be harmful. So it is important to get the right diagnosis. You may need to see a blood disorder specialist, called a hematologist.
Beta thalassemia is a genetic disease inherited from one or both parents. The only risk factor is having a family history of the disease.
Different people will have different symptoms, based on which type of the disorder is inherited.
Beta thalassemia major. This is the most severe type of this disorder. Children born with this type will have symptoms early in life that include:
- Pale skin
- Having a poor appetite
- Having many infections
Over time more symptoms will appear, including:
- Slowed growth
- Belly (abdominal) swelling
- Yellowish skin (jaundice)
Without treatment, the spleen, liver, and heart become enlarged. Bones can also become thin, brittle, and deformed.
People with this condition will need frequent blood transfusions and may not live a normal lifespan. Iron builds up in the heart and other organs from blood transfusions. This can cause heart failure as early as the teens or early 20s.
Thalassemia minima. This type often causes no symptoms.
Thalassemia intermedia. This type can cause symptoms of moderate to severe anemia including:
- Extreme tiredness (fatigue)
- Pale skin
- Slow or delayed growth
- Weak bones
- Enlarged spleen
Beta thalassemia is most often found in people who are from Greek, Italian, African, or Asian origin. The diagnosis is most often made between 6 and 12 years old.
These tests may be able to tell if you are a carrier, and can pass the disorder on to your children:
- Complete blood count (CBC). This test checks the size, number, and maturity of different blood cells in a set volume of blood.
- Hemoglobin electrophoresis with hemoglobin F and A2 quantitation. A lab test that differentiates the types of hemoglobin.
All of these studies can be done from a single blood sample. In a pregnant woman, the baby is diagnosed using CVS (chorionic villus sampling) or amniocentesis.
Your healthcare provider will figure out the best treatment based on:
- Your age, overall health, and medical history
- How sick you are
- How well you can handle certain medicines, procedures, or therapies
- How long the condition is expected to last
- Your opinion or preference
Treatment may include:
- Regular blood transfusions
- Medicines to reduce extra iron from your body (called iron chelation therapy)
- Surgery to remove the spleen, if needed
- Daily folic acid
- Surgery to remove the gallbladder
- Regular checks of heart and liver function
- Genetic tests
- Bone marrow transplant
Note: Do not take any iron supplements.
Complications of beta thalassemia vary depending on the type:
- Thalassemia minima is mild and causes no problems. But you will be a carrier of the disorder.
- Thalassemia intermedia can cause problems based on the severity of the anemia. These problems include delayed growth, weak bones, and enlarged spleen.
- Beta thalassemia major causes major problems and can result in early death. Complications may include delayed growth, bone problems causing facial changes, liver and gall bladder problems, enlarged spleen, enlarged kidneys, diabetes, hypothyroidism, and heart problems.
If you have beta thalassemia major or intermedia, living with the disorder may be challenging. Work with your healthcare provider to make a treatment plan that includes blood transfusions. Your plan may also include treatment to remove extra iron from your body (iron chelation therapy). You will also have regular blood tests and physical exams. It is important to avoid infections. Wash your hands often and avoid others who are sick. You may also need emotional support. Talk with your provider. He or she can help you find support.
- Thalassemia is an inherited blood disorder. It causes the body to make less hemoglobin.
- There are several types of beta thalassemia.
- Different people will have different symptoms, based on which type of beta thalassemia is inherited.
- Treatment of beta thalassemia may include medicines and regular blood transfusions.
- Work with your healthcare provider to stay healthy and reduce complications of the disease.
Tips to help you get the most from a visit to your healthcare provider:
- Know the reason for your visit and what you want to happen.
- Before your visit, write down questions you want answered.
- Bring someone with you to help you ask questions and remember what your provider tells you.
- At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you.
- Know why a new medicine or treatment is prescribed, and how it will help you. Also know what the side effects are.
- Ask if your condition can be treated in other ways.
- Know why a test or procedure is recommended and what the results could mean.
- Know what to expect if you do not take the medicine or have the test or procedure.
- If you have a follow-up appointment, write down the date, time, and purpose for that visit.
- Know how you can contact your provider if you have questions.
January 16, 2018
Clinical Manifestations and Diagnosis of the Thalassemias. UpToDate.
Gersten, Todd, MD , Finke, Amy, RN, BSN