Overview of current progress and challenges in diagnosis, and management of pediatric sickle cell disease in Democratic Republic of the Congo

Kasai, Emmanuel Tebandite; Opara, Jean Pierre Alworong’a; Kadima, Justin Ntokamunda; Kalenga, Masendu; Agasa, Salomon Batina; Djang'Eing'A, Roland Marini; Boemer, François

doi:10.1080/16078454.2021.2023399

Cited by 7 publications

(8 citation statements)

References 48 publications

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“…(17)(18)(19) Additionally, hematopoetic stem cell transplants are only available in six of 54 African countries: Algeria, Egypt, Morocco, Nigeria, South Africa, and Tunisia. (20) Another challenging aspect of combating SCD is stigma and misconceptions about the disease. In Kenya, approximately 50% of caregivers declined enrollment in a sickle cell program that followed children until age ve, because they believed SCD has a demoniac origin, and therefore it is more suitable to turn to the clergy and traditional healers for treatment than institutionalized healthcare.…”

Section: Sub-saharan Africamentioning

confidence: 99%

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Sickle Cell Disease: Populations and Policies, A Systematic Review

Pakhale,

Joseph,

Alhabeeb

et al. 2024

Preprint

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Background Sickle cell disease (SCD) affects over 30 million people and is most prevalent in sub-Saharan Africa, India, the Arabian Peninsula, the Caribbean, and North/South America. Globally, people with SCD disproportionately suffer premature deaths, hospitalizations due to acute complications, and significant multi-organ complications. Despite vivid similarities with Cystic Fibrosis (CF), clinical care and research is disproportionately minimal for SCD. Both CF and SCD are inherited, life-limiting, multi-system diseases; however, one mainly affects white people and the other Black people. Objective We aim to describe socio-demographics of SCD populations globally and highlight policy limitations and urgently needed changes to achieve equitable and just SCD care and research. Methods An electronic database search of Ovid MEDLINE (“sickle cell disease and marginalized people” and “policy in sickle cell disease”) was conducted for the period 1947 to May 2022. Additional information was obtained through Google Scholar, gray literature, and back references of relevant articles. Study selection and quality assessment was conducted independently in duplicate. Results Data were extracted from 137 articles, reports, and gray literature. We propose five main actionable items: 1) establish and strengthen national and international screening programs; 2) implement prevention and education programs; 3) enhance collaboration between stakeholders; 4) increase funding for SCD related research; and 5) promote new models for multidisciplinary care. Conclusions Globally, social, economic, geographical, and political factors affect access to comprehensive SCD management. Urgent policy changes are needed for equitable, inclusive, and just SCD care and research.

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Section: Sub-saharan Africamentioning

confidence: 99%

“…In Kenya, approximately 50% of caregivers declined enrollment in a sickle cell program that followed children until age ve, because they believed SCD has a demoniac origin, and therefore it is more suitable to turn to the clergy and traditional healers for treatment than institutionalized healthcare. (20,21)…”

Section: Sub-saharan Africamentioning

confidence: 99%

Sickle Cell Disease: Populations and Policies, A Systematic Review

Pakhale,

Joseph,

Alhabeeb

et al. 2024

Preprint

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“…Particularmente en lo que respecta al tratamiento de la ECF, el objetivo principal es aumentar los niveles de Hemoglobina Fetal (HF) en el paciente. Actualmente, la hidroxiurea se utiliza como fármaco antineoplásico de primera línea para aumentar los niveles de HF 7 ; sin embargo, la respuesta al tratamiento con hidroxiurea presenta una gran variabilidad entre pacientes.…”

Section: Introductionunclassified

“…La literatura resalta la importancia del diagnóstico precoz y la identificación de mutaciones asociadas al pronóstico de la ECF para prevenir o reducir sus efectos dañinos 8 . Asimismo, se ha destacado la importancia de personalizar el tratamiento de la ACF, incluida la posibilidad de realizar un screening neonatal 7 . Se han identificado diferentes mutaciones puntuales (SNP) relacionadas con el diagnóstico, pronóstico y respuesta al tratamiento.…”

Section: Introductionunclassified

Population characterization of mutations for sickle cell anemia and its treatment: One step towards personalized medicine for the disease

Cayupe,

Barra

2024

Andes pediatr

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La anemia falciforme (AF) es la enfermedad genética más frecuente del mundo. Hay países con programas de salud pública masivos para la detección temprana esta condición. Varios haplotipos específicos y polimorfismos de una sola base (SNPs) se han asociado en la literatura con la prognosis de AF.Objetivo: Demostrar la correlación significativa de SNPS relevantes para el diagnóstico y prognosis de AF entre diferentes grupos étnicos.Metodología: se analizaron las frecuencias poblacionales y correlaciones entre varios SNPs relevantes para la prognosis de AF (ej: niveles basales de hemoglobina fetal), respuesta a tratamiento con hydroxiurea y respuesta a otras drogas utilizadas en el tratamiento de AF. Los datos fueron obtenidos de bases de datos genómicos validadas entre diferentes grupos étnicos.Resultados: Los cálculos del equilibrio de Hardy-Weinberg y la regresión logística fue exitosa en clasificar los grupos étnicos, Africano (0 = 0,78, 1 = 0,89), y con menor eficiencia; Americano (AMR) (0 = 0,88, 1 = 0,00), Asia del Este (EAS) (0 = 0,80, 1 = 0,00), Europeo (EUR) (0 = 0,79, 1 = 0,00), y Sud-Asiático (SAS) (0 = 0,80, 1 = 0,00).Conclusiones: Estos resultados, extienden los trabajos previos y muestran que el perfil de mutaciones de la mayoría de los SNPs analizados, presenta distribuciones estadísticamente significativas entre grupos étnicos generales, apuntando a la necesidad de realizar programas de testeo masivo de SNPs para AF en pacientes diagnosticados con esta patología. Se concluye que la aplicación de un programa amplio de genotipificación de mutación generara una respuesta más eficiente y personalizada en el tratamiento de AF.

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“…The WHO has also recommended that SCD should be managed at different levels of care through use of simple, cost-effective and affordable strategies and technologies that are accessible to all patients. The organisation has also shared a step-wise gold standard on multi-dimensional strategies for prevention, diagnosis, and treatment of SCD [20].…”

mentioning

confidence: 99%

Treatment of Sickle Cell Disease in Sub-Saharan Africa: We have come a long way, but still have far to go

Akinsete

2022

J Global Med

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Overview of current progress and challenges in diagnosis, and management of pediatric sickle cell disease in Democratic Republic of the Congo

Cited by 7 publications

References 48 publications

Sickle Cell Disease: Populations and Policies, A Systematic Review

Sickle Cell Disease: Populations and Policies, A Systematic Review

Population characterization of mutations for sickle cell anemia and its treatment: One step towards personalized medicine for the disease

Treatment of Sickle Cell Disease in Sub-Saharan Africa: We have come a long way, but still have far to go

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