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Definitions of the phenotypic manifestations of sickle cell disease.

Publication ,  Journal Article
Ballas, SK; Lieff, S; Benjamin, LJ; Dampier, CD; Heeney, MM; Hoppe, C; Johnson, CS; Rogers, ZR; Smith-Whitley, K; Wang, WC; Telen, MJ ...
Published in: Am J Hematol
January 2010

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.

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Published In

Am J Hematol

DOI

EISSN

1096-8652

Publication Date

January 2010

Volume

85

Issue

1

Start / End Page

6 / 13

Location

United States

Related Subject Headings

  • Severity of Illness Index
  • Phenotype
  • Immunology
  • Humans
  • Erythrocyte Transfusion
  • Anemia, Sickle Cell
  • 3201 Cardiovascular medicine and haematology
  • 1102 Cardiorespiratory Medicine and Haematology
 

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Ballas, S. K., Lieff, S., Benjamin, L. J., Dampier, C. D., Heeney, M. M., Hoppe, C., … Investigators, Comprehensive Sickle Cell Centers, . (2010). Definitions of the phenotypic manifestations of sickle cell disease. Am J Hematol, 85(1), 6–13. https://doi.org/10.1002/ajh.21550
Ballas, Samir K., Susan Lieff, Lennette J. Benjamin, Carlton D. Dampier, Matthew M. Heeney, Carolyn Hoppe, Cage S. Johnson, et al. “Definitions of the phenotypic manifestations of sickle cell disease.Am J Hematol 85, no. 1 (January 2010): 6–13. https://doi.org/10.1002/ajh.21550.
Ballas SK, Lieff S, Benjamin LJ, Dampier CD, Heeney MM, Hoppe C, et al. Definitions of the phenotypic manifestations of sickle cell disease. Am J Hematol. 2010 Jan;85(1):6–13.
Ballas, Samir K., et al. “Definitions of the phenotypic manifestations of sickle cell disease.Am J Hematol, vol. 85, no. 1, Jan. 2010, pp. 6–13. Pubmed, doi:10.1002/ajh.21550.
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. Definitions of the phenotypic manifestations of sickle cell disease. Am J Hematol. 2010 Jan;85(1):6–13.
Journal cover image

Published In

Am J Hematol

DOI

EISSN

1096-8652

Publication Date

January 2010

Volume

85

Issue

1

Start / End Page

6 / 13

Location

United States

Related Subject Headings

  • Severity of Illness Index
  • Phenotype
  • Immunology
  • Humans
  • Erythrocyte Transfusion
  • Anemia, Sickle Cell
  • 3201 Cardiovascular medicine and haematology
  • 1102 Cardiorespiratory Medicine and Haematology