Beta Thalassemia

What is beta thalassemia?

Thalassemia is an inherited blood disorder. That means it is passed down through the parent’s genes. It affects how hemoglobin is made. Hemoglobin is an iron-rich protein in red blood cells. It carries oxygen to the tissues of the body.

You can have either alpha thalassemias or beta thalassemias. The severity and type of anemia depends on how many genes are affected.

What causes beta thalassemia?

Beta thalassemia is caused by flawed or missing genes. There are several types:

  • Beta thalassemia major (Cooley’s anemia). A person with this type of thalassemia has inherited 2 defective genes. This is the most severe type of beta thalassemia. People affected will need frequent blood transfusions and may not live a normal lifespan. During the first year or two of life, affected babies can be pale, fussy, and have a poor appetite. They may also have many infections. Other symptoms are slowed growth, abdominal swelling, and yellowing of the skin (jaundice). Without treatment, the spleen, liver, and heart become enlarged. Bones can also become thin, brittle, and deformed. 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.
  • Beta thalassemia minor or thalassemia trait. Only one gene is defective. This causes less severe anemia. It is further divided into:
    • Thalassemia minima. A person has few or no symptoms.
    • Thalassemia intermedia. A person has moderate to severe anemia.

People with thalassemia minor have a 50% chance of passing the gene to their children. If the other parent is not affected, their children would then also have thalassemia minor.

Many people are given iron replacement under the mistaken belief that their anemia is the iron-deficient type. Since too much iron can be harmful, it is important to get the right diagnosis. You may need to see a specialist in blood disorders called a hematologist. 

Who is at risk for beta thalassemia?

Beta thalassemia is a genetic disease that is inherited from one or both parents. The only risk factor is a family history of the disease.

What are the symptoms of beta thalassemia?

Symptoms of beta thalassemia will vary, based on which type of the disorder is inherited.

Beta thalassemia major. Children born with beta thalassemia major will have symptoms early in life including:

  • Being pale
  • Fussy
  • Having a poor appetite
  • Having many infections

Over time more symptoms will appear, including:

  • Slowed growth
  • Abdominal swelling
  • Yellowing of the skin (jaundice)

Without treatment, the spleen, liver, and heart become enlarged. Bones can also become thin, brittle, and deformed.

Thalassemia minima. This type often causes no symptoms.

Thalassemia intermedia. This type can cause symptoms of moderate to severe anemia including:

  • Fatigue
  • Paleness
  • Slow or delayed growth
  • Weak bones
  • Enlarged spleen

How is beta thalassemia diagnosed?

Beta thalassemia is most often found in people who are from Greek, Italian, African, or Asian origin. The diagnosis is most often made at 6 to 12 years of age.

Carrier status can be found  by these tests:

  • Complete blood count (CBC). This test measures 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, diagnosis in the fetus is done using CVS (chorionic villus sampling) or amniocentesis.

How is beta thalassemia treated?

Your health care provider will figure out the best treatment based on:

  • How old you are
  • Your overall health and medical history
  • How sick you are
  • How well you can handle specific medications, procedures, or therapies
  • How long the condition is expected to last
  • Your opinion or preference

Treatment may include:

  • Regular blood transfusions
  • Medications to lower the amount of iron in the 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

Finding a good donor match for bone marrow transplant is not easy. There are other risks associated with it as well.

It is important not to take any iron supplements.

What are the complications of beta thalassemia?

Complications of beta thalassemia vary depending on the type.

  • Thalassemia minima is mild and causes no complications. But, you will be a carrier of the disorder.
  • Thalassemia intermedia can cause complications related to the severity of the anemia. These complications include delayed growth, weak bone, and enlarged spleen.
  • Beta thalassemia major causes major complications and can result in early death. Complications may include delayed growth, bone problems causing facial changes, liver and gall bladder abnormalities, enlarged spleen, enlarged kidneys, diabetes, hypothyroidism, and heart problems.

Living with beta thalassemia

For those with beta thalassemia major or intermedia, living with thalassemia may be challenging. Work with your health care provider to make a treatment plan that will include blood transfusions, and possibly iron chelation treatment. Your care will also include regular blood tests and physical exams. It is also important to avoid infections. Wash your hands often and avoid others who are sick. You may also need emotional support. Talk with your health care provider who can help you find support.

Key points about beta thalassemia

  • Thalassemia is an inherited disorder that affects the production of normal hemoglobin.
  • There are three variations of beta thalassemia, depending on how the disease is inherited.
  • Beta thalassemia may cause no symptoms, mild symptoms, or moderate to severe symptoms.
  • Treatment of beta thalassemia may call for regular blood transfusions and other medications.
  • Work with your health care provider to maintain your health and lessen complications of the disease.

Next steps

Tips to help you get the most from a visit to your health care provider:
  • 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 names of new medicines, treatments, or tests, and any new instructions your provider gives you.
  • 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.