Beginnings: the molecular pathology of hemoglobin

Chapter 1 Beginnings: the molecular pathology of hemoglobin Douglas Higgs, Douglas Higgs The Laboratory of Gene Regulation MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, OX3 9DS UKSearch for more papers by this authorMohsin Badat, Mohsin Badat The Laboratory of Gene Regulation MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, OX3 9DS UKSearch for more papers by this author Douglas Higgs, Douglas Higgs The Laboratory of Gene Regulation MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, OX3 9DS UKSearch for more papers by this authorMohsin Badat, Mohsin Badat The Laboratory of Gene Regulation MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, OX3 9DS UKSearch for more papers by this author Book Editor(s):Drew Provan, Drew ProvanSearch for more papers by this authorHillard M. Lazarus, Hillard M. LazarusSearch for more papers by this author First published: 08 March 2024 https://doi.org/10.1002/9781394180486.ch1 AboutPDFPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShareShare a linkShare onEmailFacebookTwitterLinkedInRedditWechat Summary The study of hemoglobin and its disorders (hemoglobinopathies) is inextricably linked to the development of molecular medicine in general. This chapter considers the structure, synthesis, and genetic control of the human globin genes and describes the molecular pathology of the thalassemias. Through this many of the basic principles of gene transcription and translation are elucidated. Current standard of care and future curative strategies are discussed, including gene therapy and editing. General background Peltonen , L. and McKusick , V.A. ( 2001 ). Genomics and medicine. Dissecting human disease in the postgenomic era . 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