Diagnosing Thalassemia

If you originate from a part of the world where the population is known to be at high risk of being carriers for thalassemia, you and your family need to be screened, and you should discuss the matter with your health care providers. Screening for thalassemia usually consists of a simple blood test, referred to as a complete blood count (CBC),but may also include hemoglobin electrophoresis or hemoglobin high performance liquid chromatography and molecular DNA testing. A CBC measures the size of erythrocytes (red blood cells), mature red blood cells or corpuscles, and whether there is hypochromia (reduced hemoglobin content in red blood cells).

What are the types of symptoms?

The types of symptoms depend on  the number of mutated genes were that were inherited from  parents.  Individuals who are  carriers (carry only one mutation) usually do not experience symptoms.  They may discover they are carriers when they have a CBC for any reason. In situations when both parents are carriers, they may be surprised by the birth of a severely anemic infant or by the birth of a stillborn. When thalassemia trait is diagnosed an individual should be counseled about their future reproductive risk.  This is usually best done from a specialized center or an adult or pediatric hematologist.