Definitions of the phenotypic manifestations of sickle cell disease.

Published

Journal Article

Sickle cell disease (SCD) is a pleiotropic genetic disorder of hemoglobin that has profound multiorgan effects. The low prevalence of SCD ( approximately 100,000/US) has limited progress in clinical, basic, and translational research. Lack of a large, readily accessible population for clinical studies has contributed to the absence of standard definitions and diagnostic criteria for the numerous complications of SCD and inadequate understanding of SCD pathophysiology. In 2005, the Comprehensive Sickle Cell Centers initiated a project to establish consensus definitions of the most frequently occurring complications. A group of clinicians and scientists with extensive expertise in research and treatment of SCD gathered to identify and categorize the most common complications. From this group, a formal writing team was formed that further reviewed the literature, sought specialist input, and produced definitions in a standard format. This article provides an overview of the process and describes 12 body system categories and the most prevalent or severe complications within these categories. A detailed Appendix provides standardized definitions for all complications identified within each system. This report proposes use of these definitions for studies of SCD complications, so future studies can be comparably robust and treatment efficacy measured. Use of these definitions will support greater accuracy in genotype-phenotype studies, thereby achieving a better understanding of SCD pathophysiology. This should nevertheless be viewed as a dynamic rather than final document; phenotype descriptions should be reevaluated and revised periodically to provide the most current standard definitions as etiologic factors are better understood, and new diagnostic options are developed.

Full Text

Duke Authors

Cited Authors

  • Ballas, SK; Lieff, S; Benjamin, LJ; Dampier, CD; Heeney, MM; Hoppe, C; Johnson, CS; Rogers, ZR; Smith-Whitley, K; Wang, WC; Telen, MJ; Investigators, Comprehensive Sickle Cell Centers,

Published Date

  • January 2010

Published In

Volume / Issue

  • 85 / 1

Start / End Page

  • 6 - 13

PubMed ID

  • 19902523

Pubmed Central ID

  • 19902523

Electronic International Standard Serial Number (EISSN)

  • 1096-8652

Digital Object Identifier (DOI)

  • 10.1002/ajh.21550

Language

  • eng

Conference Location

  • United States