Thalassemia is a genetic blood disorder affecting a person’s hemoglobin, or the protein in red blood cells that carries oxygen. This condition destroys red blood cells, causing anemia – the deficiency of healthy red blood cells capable of carrying oxygen through the body. Other than a genetic predisposition, other risk factors for thalassemia include being of Asian, Chinese, Mediterranean, or African descent.
The severity of the symptoms associated with thalassemia anemia depends on which type it is and whether a person has inherited the condition from one parent or both. Hemoglobin is made up of alpha globin protein and beta globin protein. Alpha thalassemia occurs when there are genetic defects to the alpha globin protein and beta thalassemia is when the defects affect the beta globin protein. Within those two types, the condition can also be either major (if inherited from both parents) or minor (if inherited from one parent).
Symptoms vary, and some carriers of thalassemia will not experience any at all. Symptoms may include:
- Severe anemia (requiring regular blood transfusions and folate supplements)
- Bone deformities in the face
- Growth failure
- Jaundice (yellow skin)
- Shortness of breath
Genetic counseling and prenatal screening can be used to identify whether a couple carries these defective genes before they have children. It can also be diagnosed after birth through a physical exam (looking for enlargement of the spleen), a blood test, or a mutational analysis.
If untreated, thalassemia can make someone more susceptible to infections, as well as lead to heart or liver failure. If you or your child show symptoms of this condition, consult your primary care physician or pediatrician.