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Genome Editing for the β-Hemoglobinopathies

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Gene and Cell Therapies for Beta-Globinopathies

Part of the book series: Advances in Experimental Medicine and Biology ((ASGCT,volume 1013))

Abstract

The β-hemoglobinopathies are diverse set of disorders caused by mutations in the β-globin (HBB) gene. Because HBB protein is a critical component (along with α-globin, heme, and iron) of hemoglobin, the molecule essential for oxygen delivery to tissues, mutations in HBB can result in lethal diseases or diseases with multi-organ dysfunction. HBB mutations can be roughly divided into two categories: those that cause a dysfunctional protein (such as sickle cell disease but also including varied diseases caused by high-affinity hemoglobins, low-affinity hemoglobins, and methemoglobinemia) and those that cause the insufficient production of HBB protein (β-thalassemia). Sickle cell disease and β-thalassemia are both the most prevalent and the most devastating of the β-hemoglobinopathies.

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Authors and Affiliations

  1. Department of Pediatrics, Stanford University, Lorry Lokey Stem Cell Research Building MC5462, 1291 Welch Rd, Stanford, CA, 94305, USA

    Matthew H. Porteus

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  1. Matthew H. Porteus
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Correspondence to Matthew H. Porteus .

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Editors and Affiliations

  1. Cincinnati Children’s Hospital, Comprehensive Sickle Cell Program, Cincinnati, Ohio, USA

    Punam Malik

  2. National Institutes of Health and Human Services, Bethesda, Maryland, USA

    John Tisdale

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Porteus, M.H. (2017). Genome Editing for the β-Hemoglobinopathies. In: Malik, P., Tisdale, J. (eds) Gene and Cell Therapies for Beta-Globinopathies. Advances in Experimental Medicine and Biology(), vol 1013. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-7299-9_8

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