What is beta thalassemia?
Thalassemia is an inherited disorder that affects the production of normal hemoglobin (a type of protein in red blood cells that carries oxygen to the tissues of the body). Thalassemia includes a number of different forms of anemia. The severity and type of anemia depends upon the number of genes that are affected.
Beta thalassemia is caused by mutations in the beta chain of the hemoglobin molecule. There is one beta chain gene on each #11 chromosome, for a total of two. How these genes are altered determines the specific type of beta thalassemia in a person:
How is beta thalassemia diagnosed?
Beta thalassemia is most often found in persons who are of Mediterranean ancestry (Greek or Italian). Each child of two carrier parents is at 25 percent risk for the disease. Carrier status can be determined by the following:
- complete blood count (CBC) – a measurement of size, number, and maturity of different blood cells in a specific volume of blood.
- hemoglobin electrophoresis with A2 quantitation – a lab procedure that differentiates the types of hemoglobin present.
All of these studies can be performed from a single blood sample. Prenatal diagnosis is determined from CVS (chorionic villus sampling) or amniocentesis.
Treatment for beta thalassemia major or Cooley’s anemia:
Specific treatment for beta thalassemia major or Cooley’s anemia will be determined by your physician based on:
- your age, overall health, and medical history
- extent of the disease
- your tolerance for specific medications, procedures, or therapies
- expectations for the course of the disease
- your opinion or preference