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:
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:
Over time more symptoms will appear, including:
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:
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:
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:
Treatment may include:
Note: Do not take any iron supplements.
Complications of beta thalassemia vary depending on the type:
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.
Tips to help you get the most from a visit to your healthcare provider:
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