Laboratory Evaluation of Beta Thalassemia

Excerpt

Beta thalassemia is a group of inherited hemoglobinopathies that can lead to anemia of varying severity. Beta thalassemias are caused by a number of mutations that affect the different aspects of beta globin production, like the transcription, translation, or stability of the beta-globin product. This eventually leads to defective hemoglobin, which is susceptible to destruction.

The diagnosis starts at the clinic, where apparent signs and symptoms can be gathered based on history and examination. The age and ethnic background of the patient are valuable clinical information. To confirm the diagnosis, laboratory testing is a necessary requisite. Laboratory evaluation for beta thalassemia can vary from routine blood tests like peripheral smears, complete blood count, iron studies, and hemoglobin analysis to more complex tests, including genetic testing.