NYMC Faculty Publications

Smoothing the Crescent Curve: Sickle Cell Disease

Author Type(s)

Faculty

DOI

10.1182/asheducation-2014.1.468

Journal Title

Hematology

First Page

468

Last Page

474

Document Type

Article

Publication Date

12-5-2014

Department

Pediatrics

Keywords

Anemia, Sickle Cell, Genetic Therapy, Hematopoietic Stem Cell Transplantation, Humans, Lymphocyte Depletion, Transplantation Conditioning, Transplantation, Homologous

Disciplines

Medicine and Health Sciences

Abstract

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.

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