Smoothing the crescent curve: sickle cell disease. Hematology Am Soc Hematol Educ Program 2014 Dec 05;2014(1):468-74
Date
02/20/2015Pubmed ID
25696896DOI
10.1182/asheducation-2014.1.468Scopus ID
2-s2.0-84937575445 (requires institutional sign-in at Scopus site) 7 CitationsAbstract
Sickle cell disease (SCD) is an inherited disorder secondary to a point mutation at the sixth position of the beta chain of human hemoglobin that results in the replacement of valine for glutamic acid. This recessive genetic abnormality precipitates the polymerization of the deoxygenated form of hemoglobin S that induces a major distortion of red blood cells (sickle red blood cells), which decreases sickle red blood cell deformability, leading to chronic hemolysis and vasoocclusion. These processes can result in severe complications, including chronic pain, end organ dysfunction, stroke, and early mortality. The only proven curative therapy for patients with SCD is myeloablative conditioning and allogeneic stem cell transplantation from HLA-matched sibling donors. In this review, we discuss the most recent advances in allogeneic stem cell transplantation in SCD, including more novel approaches such as reduced toxicity conditioning and the use of alternative allogeneic donors (matched unrelated donors, umbilical cord blood transplantation, haploidentical donors) and autologous gene correction stem cell strategies. Prospects are bright for new stem cell approaches for patients with SCD that will enable curative stem and genetic correction therapies for a greater number of patients suffering from this chronic and debilitating condition.
Author List
Talano JA, Cairo MSAuthor
Julie-An M. Talano MD Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Anemia, Sickle CellGenetic Therapy
Hematopoietic Stem Cell Transplantation
Humans
Lymphocyte Depletion
Transplantation Conditioning
Transplantation, Homologous
