Thalassemia: An Extensive Analysis of Epidemiology, Diagnosis, and Treatment Approaches

Thalassemia comprises a spectrum of genetic hemoglobin disorders due to impaired or complete loss of the synthesize one or more globin chains, thus leading to chronic hemolytic anemia with different degrees of clinical severity. Here, thalassemia is reviewed fully from its inception in history up to the modern world's overall epidemiology of thalassemia specifically within areas such as the Middle East, the Mediterranean, and South Asia. The molecular pathogenesis and genetic basis of alpha and beta thalassemia are reviewed, with particular attention to the effect of individual mutations on presentation. Classification systems, such as the separation between thalassemia trait, intermedia, and major, are discussed in relation to both laboratory and symptomatology. The book also describes the key complications of thalassemia, including iron overload, organ dysfunction, and growth retardation, and reviews new diagnostic techniques, including hemoglobin electrophoresis and genetic analysis. Options for management from chronic transfusions and chelation with iron to cure by bone marrow transplantation and current gene therapies under investigation are assessed. Lastly, prevention via genetic counseling, premarital testing, and prenatal diagnosis is highlighted as important, especially in high-risk groups. This report is intended to be a reference for healthcare providers, researchers, and public health planners who are engaged in the prevention and care of thalassemia.