Omics Technologies for Clinical Diagnosis and Gene Therapy: Medical Applications in Human Genetics


Author(s): Mahnoor Asif, Sadia Nawaz* and Muhammad Tariq

Pp: 226-241 (16)

DOI: 10.2174/9789815079517122010017

* (Excluding Mailing and Handling)


 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

Keywords: CVS, Hemoglobin, Hemoglobinopathies, Sickle cell anemia, Thalassemia.

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