Thalassemia 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
There are 2 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
changed (mutated) or missing genes. Two specific genes are affected. There are several
types of this disorder:
Beta thalassemia major (Cooley’s anemia). There are 2 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 1 gene is
damaged. This causes less severe anemia. People with this type have a 1 in 2 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 ages 6 and 12.
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.
Treatment will depend on your symptoms, age, and general health. It
will also depend on how severe the condition is.
Treatment may include:
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 prevent infections.
Wash your hands often and stay away from 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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