Emerging cellular and gene therapies for congenital anemias. Issue 4 (28th October 2016)

• Record Type: Journal Article
• Authors: Ludwig, Leif S.; Khajuria, Rajiv K.; Sankaran, Vijay G.
• Other Names: Tan Wen‐Hann guestEditor.; Bird Lynne M. guestEditor.
• Is Part Of: American journal of medical genetics. Volume 172:Issue 4(2016)
• Page Start: 332
• Page End: 348
• Publication Date: 2016-10-28
• Subjects: anemia -- red blood cells -- cellular therapy -- gene therapy -- genome editing -- hematopoiesis; Medical genetics -- Periodicals; 616.04205
• DOI: 10.1002/ajmg.c.31529
• Languages: English
• ISSNs: 1552-4868

Abstract

Abstract : Congenital anemias comprise a group of blood disorders characterized by a reduction in the number of peripherally circulating erythrocytes. Various genetic etiologies have been identified that affect diverse aspects of erythroid physiology and broadly fall into two main categories: impaired production or increased destruction of mature erythrocytes. Current therapies are largely focused on symptomatic treatment and are often based on transfusion of donor‐derived erythrocytes and management of complications. Hematopoietic stem cell transplantation represents the only curative option currently available for the majority of congenital anemias. Recent advances in gene therapy and genome editing hold promise for the development of additional curative strategies for these blood disorders. The relative ease of access to the hematopoietic stem cell compartment, as well as the possibility of genetic manipulation ex vivo and subsequent transplantation in an autologous manner, make blood disorders among the most amenable to cellular therapies. Here we review cell‐based and gene therapy approaches, and discuss the limitations and prospects of emerging avenues, including genome editing tools and the use of pluripotent stem cells, for the treatment of congenital forms of anemia. © 2016 Wiley Periodicals, Inc.