Thalassemia
What is Thalassemia? Types
Thalassemia is an inherited blood disorder in which the body abnormally produces the amount of hemoglobin (the protein in red blood cells that carries oxygen and carbon dioxide). This disorder causes large amounts of red blood cells to be destroyed, resulting in anemia.
To understand the types of thalassemia, it is important to know that thalassemia occurs when there is a defect in a gene that helps control the production of one of the two proteins that make up hemoglobin, alpha globin or beta globin.
Thus, there are two main types of thalassemia:
- Alpha thalassemiaà Occurs when a gene or genes related to the alpha globin protein are missing or have changed. It occurs mainly in people from Southeast Asia, the Middle East, China, and those of African origin.
- Beta thalassemia occurs when there are genetic defects affecting the beta globin protein. It occurs mostly in people of Mediterranean origin.
Moreover, there are many forms of thalassemia, each of which has many subtypes. Thus, both alpha and beta thalassemia have 2 possible forms:
- Thalassemia majorà To suffer from it, the defective gene must be inherited from both parents. It is also called Cooley’s anemia.
- Thalassemia minorà Occurs if the patient receives the defective gene from one parent. People with this form of thalassemia are carriers of the disease, so they usually have no symptoms.
What are the symptoms?
The symptoms of thalassemia depend on the type of thalassemia. Thus, the most severe form of alpha thalassemia major causes stillbirth or death of the baby at the time of delivery or in late pregnancy. On the other hand, children born with thalassemia major (Cooley’s anemia) are normal at birth, but develop severe anemia in the first year of life.
In addition, other symptoms of thalassemia may include:
- Bone deformities of the face
- Fatigue
- Failure to thrive
- Respiratory distress
- Yellowish skin
There is also a type of thalassemia (alpha and beta minor form) in which patients have small red blood cells but no symptoms.
Can it be prevented?
Thalassemia cannot be prevented because it is due to an inherited disorder. However, there is an increased risk of thalassemia:
- African-American, Asian or Mediterranean ethnicities.
- Having a family history of thalassemia
What is the treatment?
Treatment of thalassemia major usually requires regular blood transfusions as well as folate supplementation. In case the patient receives transfusions, he/she should not take iron supplements, as this may cause excessive amounts of iron to accumulate in the body, being harmful. If many blood transfusions are received, such patients usually require chelation therapy, to eliminate the excess iron.
On the other hand, bone marrow transplantation may be helpful in treating the disease in some patients, especially children.