Sickle cell disease (SCD) is the most common inherited condition worldwide. In the United States, SCD affects 100,000 births every year, mostly persons of African descent. In SCD, red blood cells assume a sickle shape when deoxygenated. This leads to the occlusion of small blood vessels and decreased oxygenated blood flow, resulting in ischemic and thrombotic injury to various organs, which further leads to organ dysfunction. In pregnancy, patients with SCD are at an increased risk of vaso-occlusive crises, which further increases the risks of maternal, fetal, and neonatal morbidity and mortality.
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Variability in Notification of Positive Newborn Screening Results for Sickle Cell Trait Across the United States.
Adv Hematol
December 2024
Division of Hematology, Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Universal in the United States (US) since 2006, newborn screening (NBS) programs for sickle cell disease (SCD) allow for early identification of the disease and, as an unintentional byproduct, identification of sickle cell trait (SCT). Unlike other carrier states, SCT is highly prevalent and is found in nearly 3 million Americans, which results in important reproductive implications. Currently, all NBS programs in the US are responsible for their own policies regarding SCT notification, and little is known about how SCT notification practices are performed and how these practices vary across NBS programs.
View Article and Find Full Text PDFAssociation of COMT rs4680 Genotype With Chronic Neuropathic Pain Experience in Patients With Sickle Cell Disease.
Pain Manag Nurs
December 2024
College of Nursing, University of Florida, Gainesville, FL. Electronic address:
Purpose: The pain experience of patients with sickle cell disease (SCD) frequently consists of episodes of acute exacerbation. However, recent studies suggest that many patients who suffer from SCD have symptoms of chronic neuropathic pain. Additional research is needed to determine what role genotype plays in the patient's pain phenotype experience in SCD.
View Article and Find Full Text PDFPediatric Neurosonography: Comprehensive Review and Systematic Approach.
Can Assoc Radiol J
December 2024
Department of Diagnostic and Intervention Radiology, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Neurosonography (NSG) is pivotal for rapid, point-of-care neonatal brain assessment. This review elucidates the comprehensive applications of NSG in pediatric care, emphasizing its role in early diagnosis and management of pathologies affecting the pediatric head-such as scalp lesions, misshapen calvarium, ventricular distortions, and cerebrovascular abnormalities, and its specific role in conditions like hypoxic-ischaemic encephalopathy (HIE) across different neonatal gestational ages. We explore its diagnostic advantage in critical care settings, particularly for infants with stroke risk in sickle cell disease, ECMO-related complications, screening for therapeutic hypothermia, and routine neonatal intensive care unit monitoring.
View Article and Find Full Text PDFExploring the impact of stigma on health-related quality of life among individuals with sickle cell disease: a moderated mediation analysis of distress and social support.
Psychol Health Med
December 2024
Department of Psychology, University of Nigeria, Enugu, Nigeria.
Despite extensive research on the impact of stigma on the health-related quality of life (HRQoL) of people with sickle cell disease, gaps remain in understanding the mechanisms through which this association occurs. We investigated how stigma impacts HRQoL among people with sickle cell disease (SCD) through distress and the moderating role of social support in this association. Utilizing a cross-sectional design, we sampled 165 people with SCD in Nigeria, who completed relevant measures.
View Article and Find Full Text PDFGene therapy for sickle cell disease: recent advances, clinical trials and future directions.
Cytotherapy
December 2024
Molecular and Clinical Hematology Branch, National Heart, Lung, and Blood Institute, Bethesda, Maryland, USA.
Sickle cell disease (SCD) is the most common inherited blood disorder worldwide, impacting millions and imposing severe healthcare challenges, particularly in resource-limited regions. Current treatments have variable efficacy and require lifelong adherence. Allogeneic Hematopoietic Stem Cell Transplantation can be curative but comes with significant side effects and limited donor availability limits its widespread applicability.
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