The DOI matches its Crossref record; 151 of the 151 references it cites were found in a registry or an index.
Definitions of the phenotypic manifestations of sickle cell disease
Open accessAbstract
Sickle cell disease (SCD) is a pleiotropic genetic disorder of hemoglobin that has profound multiorgan effects. The low prevalence of SCD (∼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. Am. J. Hematol. 2010. © 2009 Wiley‐Liss, Inc.
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Management of Sickle Cell Disease: Summary of the 2014 Evidence-Based Report by Expert Panel Members
Yawn, B. P., Buchanan, G. R., Afenyi-Annan, A. N., Ballas, S. K., Hassell, K. L., James, A. H., Jordan, L., Lanzkron, S. M., Lottenberg, R., Savage, W. J., et al. (2014) · JAMA · doi:10.1001/jama.2014.10517 · Cited by 1,599
Self-citationKavanagh, P. L., Fasipe, T. A., & Wun, T. (2022) · JAMA · doi:10.1001/jama.2022.10233 · Cited by 478
Maitra, P., Caughey, M., Robinson, L., Desai, P. C., Jones, S., Nouraie, M., Gladwin, M. T., Hinderliter, A., Cai, J., & Ataga, K. I. (2017) · Haematologica · doi:10.3324/haematol.2016.153791 · Cited by 137
Estepp, J. H., Smeltzer, M. P., Kang, G., Li, C., Wang, W. C., Abrams, C., Aygun, B., Ware, R. E., Nottage, K., & Hankins, J. S. (2017) · American Journal of Hematology · doi:10.1002/ajh.24906 · Cited by 88
Self-citationPlatelet Activation and Inhibition iN Sickle cell disease (PAINS) study
Frelinger, A. L., Jakubowski, J. A., Brooks, J. K., Carmichael, S. L., Berny-Lang, M. A., Barnard, M. R., Heeney, M. M., & Michelson, A. D. (2014) · Platelets · doi:10.3109/09537104.2013.770136 · Cited by 60
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Metadata
- Authors
- Ballas, S. K., Lieff, S., Benjamin, L. J., Dampier, C. D., Heeney, M. M., Hoppe, C., Johnson, C. S., Rogers, Z. R., Smith‐Whitley, K., Wang, W. C., & Telen, M. J.
- Venue
- American Journal of Hematology
- Publisher
- Wiley
- Published
- 2009-11-09
- Volume
- 85
- Issue
- 1
- Pages
- 6-13
- ISSN
- 0361-8609 (ISSN-L)
- 1096-8652
- OpenAlex
- W2079065998
- Cited by
- 451
- References
- 151
- FWCI
- 6.22
- Type
- journal article
- Language
- en
- Open access
- bronze
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