Hemoglobinopathies

Hemoglobinopathies are a group of inherited blood disorders characterized by compromised hemoglobin function. Hemoglobin is a 64kDa protein, consisting of four globin polypeptides each containing one heme molecule; blood acquires its red color from this heme molecule. Two of the four polypeptide chains are α-globin chains, whereas the other two are β and γ chains during adult and fetal life, respectively. Hemoglobin carries oxygen to respirating cells and tissues in vertebrates and defects in genes encoding this protein result in a variety of disorders, ranging from mild asymptomatic to severe fatal phenotypes. This chapter reviews various hemoglobinopathies underlying mutations in globin genes. We also provide a brief note of the traditional and contemporary diagnostic approaches and screening, both prenatal and postnatal, with a specific focus on recent advances in this regard. We have summarized various therapeutic strategies, from transfusion and iron chelation to CRISPR-driven genome editing aimed at reactivating fetal hemoglobin in adults. The chapter concludes with a brief account of the future challenges and prospects for developing a therapy for hemoglobinopathies a clinical reality