Document Type
Article
Publication Date
1-1-2011
Abstract
The sickle cell gene is pleiotropic in nature. Although it is a single gene mutation, it has multiple phenotypic expressions that constitute the complications of sickle cell disease. The frequency and severity of these complications vary considerably both latitudinally in patients and longitudinally in the same patient over time. Thus, complications that occur in childhood may disappear, persist or get worse with age. Dactylitis and stroke, for example, occur mostly in childhood, whereas leg ulcers and renal failure typically occur in adults. It is essential that the phenotypic manifestations of sickle cell disease be defined accurately so that communication among providers and researchers facilitates the implementation of appropriate and cost-effective diagnostic and therapeutic modalities. The aim of this review is to define the complications that are specific to sickle cell disease based on available evidence in the literature and the experience of hematologists in this field.
Recommended Citation
Ballas, Samir K., "Defining the phenotypes of sickle cell disease." (2011). Department of Medicine Faculty Papers. Paper 64.
https://jdc.jefferson.edu/medfp/64
PubMed ID
21932935
Comments
This article has been peer reviewed. It is the authors' final version prior to publication in Hemoglobin
Volume 35, Issue 5-6, October 2011, Pages 511-519.
The published version is available at DOI: 10.3109/03630269.2011.610477. Copyright © Informa