Definitions of the phenotypic manifestations of sickle cell disease.

Authors

Samir K Ballas, Thomas Jefferson UniversityFollow
Susan Lieff, Rho Federal Systems, Rho Inc.
Lennette J Benjamin, Department of Pediatrics, Montefiore Medical Center, Albert Einstein College of Medicine
Carlton D Dampier, Department of Pediatrics, Emory University, College of MedicineFollow
Matthew M Heeney, Division of Pediatric Hematology/Oncology, Children's Hospital Boston
Carolyn Hoppe, Department of Hematology/Oncology, Children's Hospital OaklandFollow
Cage S Johnson, Department of Medicine, Keck School of Medicine, University of Southern California
Zora R Rogers, Division of Hematology/Oncology, Department of Pediatrics, University of Texas Southwestern Medical Center Dallas
Kim Smith-Whitley, Department of Hematology, Children's Hospital of Philadelphia
Winfred C Wang, Department of Hematology, St. Jude Children's Research HospitalFollow
Marilyn J Telen, Division of Hematology, Duke University Medical Center

Document Type

Article

Publication Date

1-1-2010

Comments

This article has been peer reviewed. It is the authors' final version prior to publication in American Journal of Hematology Volume 85, Issue 1, January 2010, Pages 6-13. The published version is available at DOI: 10.1002/ajh.21550. Copyright © Wiley InterScience.

Abstract

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.

Recommended Citation

Ballas, Samir K; Lieff, Susan; Benjamin, Lennette J; Dampier, Carlton D; Heeney, Matthew M; Hoppe, Carolyn; Johnson, Cage S; Rogers, Zora R; Smith-Whitley, Kim; Wang, Winfred C; and Telen, Marilyn J, "Definitions of the phenotypic manifestations of sickle cell disease." (2010). Department of Medicine Faculty Papers. Paper 38.
https://jdc.jefferson.edu/medfp/38

PubMed ID

19902523