Thalassemia
What is thalassemia?
Thalassemia is a group of inherited disorders known as hemoglobinopathies. The condition can cause severe anemia, and there are different types of thalassemia, with the severity of the disease varying. Thalassemia is very common in regions such as Asia, the Middle East, Southern Europe, and Africa.
What causes thalassemia?
Thalassemia is caused by mutations in the DNA of cells that make hemoglobin. The mutations associated with thalassemia are passed on from parents to children.
Hemoglobin molecules are made of chains called alpha and beta chains that can be affected by mutations. In thalassemia, the production of either the alpha or beta chains are reduced, resulting in either alpha-thalassemia or beta-thalassemia.
In alpha-thalassemia, the severity of the condition depends on the number of gene mutations inherited from your parents. The more gene mutations you inherit, the more severe the condition will be.
In beta-thalassemia, the severity also depends on which part of the hemoglobin molecule is affected.
What are the symptoms of thalassemia?
Symptoms depend on the type of thalassemia and its severity. Symptoms may include:
- Fatigue
- Shortness of breath
- Dizzines of weakness
- Irregular or fast heartbeat
- Headaches
- Pale or yellow skin
- Slow growth
- Late puberty
- Brittle or abnormally shaped bones
What is the treatment for thalassemia?
Blood transfusions: How often transfusions are needed can vary. Some patients may need blood transfusions every few weeks, while others may go months between transfusions.
Chelation therapy: Blood transfusions can over time lead to an excess buildup of iron in the body. This iron overload may cause complications affecting the heart, liver, and blood sugar regulation. Patients who receive regular blood transfusions will need medication to help remove the excess iron from the body. These chelation therapies include deferasirox (Exjade), deferiprone (Ferriprox), and deferoxamine (Desferal).
Gene Therapy: A promising treatment with the potential to cure the disease. Gene therapy has just been approved in Denmark for transfusion dependent beta thalassemia.