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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.
Beta thalassemia is caused by flawed or missing genes. There are several types:
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.
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:
Over time more symptoms will appear, including:
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:
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:
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.
Your health care provider will figure out the best treatment based on:
Treatment may include:
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.
Complications of beta thalassemia vary depending on the type.