Thalassemia Major

Thalassemia major is an inheritable blood disorder which requires lifelong transfusion support. An early detection and formulation of management plan are mandatory. It is important to differentiate it from conditions which present with microcytic hypochromic anemia, such as iron deficiency, sideroblastic anemia, as well as structural hemoglobinopathies and other inheritable diseases like congenital dyserythropoietic anemia (CDA), hereditary pyropoikilocytosis (HPP), and hereditary persistence of fetal hemoglobin (HPFH). 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 the final diagnosis of beta thalassemia major. A comprehensive description of the pathophysiology of disease, the genotype-phenotype correlation in thalassemia, investigations required during the follow up of patients on long-term transfusion support, challenges in early detection of alfa thalassemia in routine HPLC and indications of genetic screening are discussed. 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 major.