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Review
. 2013 Dec;60(6):1363-81.
doi: 10.1016/j.pcl.2013.09.006.

Sickle cell disease in childhood: from newborn screening through transition to adult medical care

Charles T Quinn  1
Affiliations
Review

Sickle cell disease in childhood: from newborn screening through transition to adult medical care

Charles T Quinn. Pediatr Clin North Am. 2013 Dec.

Abstract

Sickle cell disease (SCD) is the name for a group of related blood disorders caused by an abnormal hemoglobin molecule that polymerizes on deoxygenation. SCD affects the entire body, and the multisystem pathophysiology begins in infancy. Thanks to prognostic and therapeutic advancements, some forms of SCD-related morbidity are decreasing, such as overt stroke. Almost all children born with SCD in developed nations now live to adulthood, and lifelong multidisciplinary care is necessary. This article provides a broad overview of SCD in childhood, from newborn screening through transition to adult medical care.

Keywords: Diagnosis; Genetics; Pathophysiology; Sickle cell disease; Survival; Treatment.

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Conflict of interest statement

Conflict of Interest: Former advisory board member for Apotex Corporation.

Figures

Fig. 1
Fig. 1
The initiating factor of SCD pathophysiology is RBC sickling, which leads to hemolysis and vascular stasis. Ischemia-reperfusion injury is the end result of multiple, complex pathophysiologic interactions. (Modified from Hebbel RP. Reconstructing sickle cell disease: a data-based analysis of the “hyperhemolysis paradigm” for pulmonary hypertension from the perspective of evidence-based medicine. Am J Hematol 2011;86(2):123–54; with permission.)
Fig. 2
Fig. 2
Overt stroke. (A) A diffusion-weighted image that shows extensive acute ischemia in the left cerebral hemisphere (arrows) as well as in the right basal ganglia in a child with Hb SS. (B) MRA showing complete occlusion of the proximal middle cerebral artery (arrow).
Fig. 3
Fig. 3
SCI. Bilateral SCI is seen in the frontal white matter (arrows) in a child with Hb SS.
Fig. 4
Fig. 4
Improvements in survival for children with Hb SS and Hb Sβ0. Overall survival curves spanning 4 decades are shown for large SCD cohorts in the United States, United Kingdom, and Jamaica. (Data from Quinn CT, Rogers ZR, McCavit TL, et al. Improved survival of children and adolescents with sickle cell disease. Blood 2010;115:3447–52.)
See this image and copyright information in PMC

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