Beta Thalassemia Treatment

Beta thalassemia symptoms

Signs and symptoms of beta thalassemia are caused by anemia (low hemoglobin). This occurs because the body does not make enough beta globin to carry oxygen in the blood. The severity of signs or symptoms depends on the type of beta thalassemia a person has and the severity of the disorder.

Signs and symptoms of mild-to-moderate anemia include:

• Feeling tired or weak (fatigue)
• Shortness of breath
• Dizziness
• Headache
• Cold hands and feet
• Pale skin
• Chest pain

Beta thalassemia trait usually causes mild microcytic (small cells) anemia but is usually asymptomatic. Some associated conditions may include:

• Can look like mild iron-deficiency anemia
• May have moderate anemia during pregnancy

Beta thalassemia intermedia (non-transfusion dependent) causes mild to moderate anemia. It also causes other health problems. These may include:

• Slowed growth
• Delayed puberty
• Enlarged spleen
• Bone problems

Beta thalassemia major (transfusion dependent) causes more severe anemia. People with this condition may also have other health issues. These may include:

• Poor appetite
• Dark urine
• Yellowish skin or whites of the eyes (jaundice)
• Slowed growth
• Delayed puberty
• Enlarged spleen, liver, or heart
• Bone problems

Beta thalassemia causes

Certain genes control how the body makes hemoglobin. When these genes are changed or missing, thalassemia occurs.

The specific hemoglobin protein affected in beta thalassemia is beta globin. Beta globin is made by a specific gene on chromosome 11. Each person has 2 copies of this gene (1 from each parent) to make enough beta globin for normal red blood cells.

Different forms of beta thalassemia occur if 1 or more of these genes are altered:

• If 1 gene is altered, the person has beta thalassemia trait (also called beta thalassemia minor) and can cause mild anemia.
• If both genes are altered, the person has beta thalassemia intermedia (non-transfusion dependent thalassemia) or beta thalassemia major (transfusion-dependent thalassemia).

If 1 parent has beta thalassemia trait and the other parent does not, there is a 50% (1 in 2) chance of a child having beta thalassemia trait.

If both parents have beta thalassemia trait, there is a 25% (1 in 4) chance of having a child with beta thalassemia intermedia or major.

Beta thalassemia can combine with other altered beta genes and cause problems also. For example, if 1 parent has beta thalassemia trait and the other parent has sickle cell trait (another type of altered beta globin gene), there is a 25% (1 in 4) chance of having a child with sickle beta thalassemia disease. People with sickle beta thalassemia disease can have the same health issues as people with sickle cell disease. The symptoms can range from moderate to severe depending on the type of beta thalassemia inherited.

Beta thalassemia is one of the most common blood disorders in the world. Thousands of infants are born with the disorder each year. Anyone can have beta thalassemia, but is common in people of African, Greek, Italian, Middle Eastern and Asian descent.

Beta thalassemia diagnosis

A blood test can detect beta thalassemia trait. Because beta thalassemia is inherited, family history and ancestry can help diagnose this blood disorder.

Tests to diagnose beta thalassemia include:

• Complete blood count (CBC) with reticulocytes and blood smear review to check the number, size, shape, color, and maturity of blood cells
• Genetic testing to look for gene changes for beta thalassemia
• Hemoglobin electrophoresis to measure the level and types of hemoglobin in the blood
   

Beta thalassemia treatment

Treatment for beta thalassemia is based on the type and severity of the disorder. People who have beta thalassemia trait usually have mild or no symptoms and need little or no treatment. Treatments for moderate and severe beta thalassemia include blood transfusions and allogeneic bone marrow transplants.

Blood transfusions

Blood transfusions are the main treatment for people with severe beta thalassemia. This treatment provides healthy red blood cells with normal hemoglobin. Because red blood cells only live about 3 months, repeated transfusions may be needed to maintain a healthy supply of red blood cells.

The number of blood transfusions a person needs often depends on the type of beta thalassemia they have.

• People with beta thalassemia intermedia typically do not need routine transfusions. They may need a blood transfusion every once in a while, such during an infection or other illness. They may also need them if symptoms of anemia occur.
• People with beta thalassemia major may need regular blood transfusions every 4 to 6 weeks.

Blood transfusions are a lifesaving treatment. They can help people with severe beta thalassemia feel better, live longer, and have an improved quality of life. But transfusions increase the risk of transmitted infections and viruses, such as hepatitis. Careful blood screening is practiced in the United States. These screenings make this risk much lower.

Iron chelation therapy

Iron chelation therapy removes excess iron from the body. Excess iron is often caused by repeated blood transfusions, which are a treatment for severe beta thalassemia. A buildup of iron in the blood (iron overload) can damage the heart, liver, and other parts of the body.

Three medicines are used for chelation therapy:

• Deferoxamine is a liquid medicine given slowly under the skin with a small portable pump. It is usually done overnight, 5 to 6 nights a week. This treatment takes time and can be mildly painful. Side effects may include problems with hearing and vision.
• Deferasirox is a medicine taken by mouth once a day. Side effects may include nausea, vomiting, diarrhea and liver inflammation.
• Deferiprone is a medicine taken by mouth 2 to 3 times a day. Side effects may include a low white count (neutropenia).

Stem cell (bone marrow) transplant

A stem cell (bone marrow) transplant replaces the patient’s stem cells with healthy ones from a donor. Stem cells are the cells inside bone marrow that become red blood cells and other types of blood cells.

A stem cell transplant is the only treatment that can cure beta thalassemia, but the procedure is risky. Only a small percentage of people with severe beta thalassemia can be matched well with a donor. This treatment is rarely used for beta thalassemia.

New and future treatments

New treatments are now available for beta thalassemia.

• Gene therapy makes it possible for doctors to insert a normal hemoglobin gene into stem cells in bone marrow. This allows people with beta thalassemia to make their own healthy hemoglobin and red blood cells. Gene therapy has recently been approved, and many doctors are now learning how best to prescribe this therapy.
• Scientists are studying ways to trigger the body’s ability to make fetal hemoglobin after birth. The body switches to making adult hemoglobin when a baby is born. Making more fetal hemoglobin might help replace the lack of healthy adult hemoglobin in people with beta thalassemia.
• Other medicines can also help to improve anemia in people with moderate-to-severe thalassemia. These include hydroxyurea and luspatercept.
• St. Jude doctors and scientists are engaged in the latest research to study new therapies. St. Jude patients who qualify may take part in these studies. By performing these studies, we hope to better understand and treat blood disorders.

Beta thalassemia prognosis

Health problems caused by beta thalassemia and its treatment are common and can be serious. Severe beta thalassemia that is not adequately treated can cause heart failure and death, most often between age 20–30. Less severe forms of beta thalassemia usually do not shorten a person’s lifespan.

Regular blood transfusions and iron chelation therapy may help improve chances of survival.

Living with beta thalassemia

With treatment and good medical care, people with moderate or severe forms of the disorder are living longer with a better quality of life.

Genetic counseling and prenatal screening may help people with a family history of beta thalassemia who plan to have children.

Beta thalassemia care at St. Jude

St. Jude provides the highest quality of care for patients with blood disorders:

• We provide support to help with physical, emotional, psychological, educational, and other challenges while managing your child’s blood disorder.
• Our medical teams work closely with laboratory scientists. Their work brings new treatments from the lab to the clinic.

More reasons to choose St. Jude for care include:

• At St. Jude, we have created an environment where children can be children and families can be together.
• St. Jude patients and families never pay for services authorized by St. Jude.
• The nurse-to-patient ratio at St. Jude is about 1:3 in hematology and oncology and 1:1 in the Intensive Care Unit.

Beta thalassemia clinical trials