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Beta thalassemia is a blood disorder that reduces the amount of hemoglobin in red blood cells. Hemoglobin is an iron-rich protein in red blood cells that carries oxygen to cells throughout the body. There are 2 parts of this protein: alpha globin and beta globin. Beta thalassemia affects the amount of beta globin made.
Beta thalassemia is caused by a gene change (mutation) that is inherited (passed down through families). People who inherit mutated hemoglobin genes from 1 parent but normal genes from the other are called carriers. Carriers of beta thalassemia have beta thalassemia trait. They usually have no signs or symptoms but sometimes have mild anemia symptoms. Carriers can pass the faulty genes on to their children.
Learn more about beta thalassemia trait on Together by St. Jude™.
People who have moderate to severe forms of beta thalassemia have inherited mutated hemoglobin genes from both parents. Types of beta thalassemia include beta thalassemia intermedia (known as non-transfusion dependent thalassemia) and beta thalassemia major (known as transfusion dependent thalassemia).
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:
Beta thalassemia trait usually causes mild microcytic (small cells) anemia but is usually asymptomatic. Some associated conditions may include:
Beta thalassemia intermedia (non-transfusion dependent) causes mild to moderate anemia. It also causes other health problems. These may include:
Beta thalassemia major (transfusion dependent) causes more severe anemia. People with this condition may also have other health issues. These may include:
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 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.
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:
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 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.
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 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:
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 treatments are now available for beta thalassemia.
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.
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.
St. Jude provides the highest quality of care for patients with blood disorders:
More reasons to choose St. Jude for care include:
St. Jude offers clinical trials and research studies for children, teens, and young adults with blood disorders.
Study goal:
The primary purpose of this study is to examine the safety of administration of the unlicensed investigational NCBP HPC-CORD BLOOD products in a multi-institution setting.
Patients accepted to St. Jude must have a disease we treat and must be referred by a physician or other qualified medical professional. We accept most patients based on their ability to enroll in an open clinical trial.
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