Background: Neonatal screening is the first action necessary to identify children with sickle cell disease (SCD) and thus ensure their care. Using rapid tests to give an immediate result to families is a new resilient approach of great interest. These two aspects are essential for establishing an adequate health policy for this disease. This study was undertaken in Kisangani to update the current incidence of neonatal SCD.
Methods: Heel prick blood samples of 1432 babies born from different racial groups of parents living in Kisangani were collected at birth and screened using a point of care test, i.e. the HemoTypeSC.
Results: The incidence at birth was 2.2% ( = 31; 95% CI: [1.5%-3.1%]) for HbSS homozygosity and 21% ( = 303; 95% CI: [19%-23%]) for HbAS heterozygosity. Compared to a previous study in 2010; the incidence at the birth of the HbSS form has doubled, while that of the heterozygous form HbAS remained almost unchanged. The inter-ethnic incidence of HbSS among the five top-represented ethnic groups was significant (<0.001).
Conclusion: The prevalence of homozygote form has doubled compared to the 0.96% reported in 2010. Setting up a neonatal screening program and an awareness unit is necessary to assess the need for care services correctly.
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http://dx.doi.org/10.1080/16078454.2023.2213043 | DOI Listing |
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 PDFPain 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 PDFCan 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 PDFPsychol 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 PDFCytotherapy
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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