Thalassemia Trait

Thalassemia trait or minor is a common hematological disorder which is a carrier state of thalassemia. The patients may have serious symptoms when associated with other hematological disorders like IDA and structural hemoglobinopathies. An early detection and formulation of management plan improves outcome and prevents complications. It is important to differentiate it from conditions which present with microcytic hypochromic anemia, such as iron deficiency, sideroblastic anemia, and anemia of chronic disorders. In this chapter, a clinical case scenario is presented followed by step-by-step evidence-based approach to utilize specialized and advanced tests to unravel final diagnosis of beta thalassemia trait. A comprehensive description of pathophysiology of disease, common causes of raised HbA2, importance of genetic studies and methods for the detection of HbA2 are presented in question–answer format. Salient points are summarized for quick revision. To gain expertise in this topic and enhance your skills for effective planning of management, read this chapter on thalassemia trait.