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Integration of newborn screening for sickle cell disease into primary health care in Bukavu, Democratic Republic of the Congo: a pilot study.

作者信息

Nangunia Nash Mwanza, Mukuku Olivier, Feza Viviane Bianga, Kyembwa Yves Mulindilwa, Kabesha Théophile Barhwamire, Tsongo Zacharie Kibendelwa, Mutombo André Kabamba, Wembonyama Stanislas Okitotsho

机构信息

Faculty of Medicine, Official University of Bukavu, Bukavu, Democratic Republic of the Congo.

Institut Supérieur des Techniques Médicales de Lubumbashi, Lubumbashi, Democratic Republic of the Congo.

出版信息

BMC Prim Care. 2025 Aug 30;26(1):275. doi: 10.1186/s12875-025-02976-x.


DOI:10.1186/s12875-025-02976-x
PMID:40885912
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12398986/
Abstract

INTRODUCTION: Sickle cell disease (SCD) is an inherited genetic disorder that represents a major public health challenge in sub-Saharan Africa, particularly in the Democratic Republic of the Congo (DRC). This disease, characterized by an amino acid substitution in the beta-globin chain, requires early management to reduce serious complications and improve patients' quality of life. This study aimed to test the feasibility of integrating newborn screening for SCD into primary health care in Bukavu, in the DRC, to improve health outcomes for affected infants and reduce serious complications associated with the disease. METHODS: A prospective cohort pilot study was conducted from November 2022 to December 2023 in 15 primary healthcare facilities in Bukavu. Mothers were screened for SCD at antenatal clinics and maternities. Blood samples from mothers and newborns were collected and tested using the HemoTypeSC™ point-of-care testing. Results were confirmed by Gazelle® electrophoresis in case of a positive result. RESULTS: Out of the 6,353 sensitized mothers, 4,496 consented to undergo screening, resulting in an acceptance rate of 70.77%. Among them, 91.61% were HbAA, 8.16% were HbAS, and 0.22% were HbSS. Among the mothers with HbS, only 77 received follow-up until delivery, demonstrating the feasibility of the follow-up process. The findings revealed that out of the 77 newborns, 66.23% were HbAA, 29.87% were HbAS, and 3.90% were HbSS. CONCLUSIONS: The integration of newborn screening for SCD into primary health care in Bukavu, in the DRC, has demonstrated feasibility and effectiveness in the early identification of affected infants. This initiative has the potential to mitigate the serious complications linked to the disease and enhance health outcomes for patients. These findings set the stage for broader adoption of this approach to address the implications of SCD on maternal and child health in the DRC.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e77/12398986/d351e8aad9b7/12875_2025_2976_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e77/12398986/76176c2790fd/12875_2025_2976_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e77/12398986/8f61587b784e/12875_2025_2976_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e77/12398986/3233f360b999/12875_2025_2976_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e77/12398986/d351e8aad9b7/12875_2025_2976_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e77/12398986/76176c2790fd/12875_2025_2976_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e77/12398986/8f61587b784e/12875_2025_2976_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e77/12398986/3233f360b999/12875_2025_2976_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e77/12398986/d351e8aad9b7/12875_2025_2976_Fig4_HTML.jpg

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本文引用的文献

[1]
Assessment of healthcare workers' knowledge and availability of resources for sickle cell disease management in Bukavu, Democratic Republic of the Congo.

BMC Health Serv Res. 2025-1-28

[2]
Unveiling mortality risk factors in paediatric sickle cell disease patients during acute crises in the Democratic Republic of the Congo.

Blood Cells Mol Dis. 2024-3

[3]
Global, regional, and national prevalence and mortality burden of sickle cell disease, 2000-2021: a systematic analysis from the Global Burden of Disease Study 2021.

Lancet Haematol. 2023-8

[4]
Strategies to improve healthcare services for patients with sickle cell disease in Nigeria: The perspectives of stakeholders.

Front Genet. 2023-2-3

[5]
Using dried blood spot on HemoTypeSC™, a new frontier for newborn screening for sickle cell disease in Nigeria.

Front Genet. 2022-10-26

[6]
Estimating the risk of child mortality attributable to sickle cell anaemia in sub-Saharan Africa: a retrospective, multicentre, case-control study.

Lancet Haematol. 2022-3

[7]
Evaluation of Microchip-Based Point-Of-Care Device "Gazelle" for Diagnosis of Sickle Cell Disease in India.

Front Med (Lausanne). 2021-10-13

[8]
Community based screening for sickle haemoglobin among pregnant women in Benue State, Nigeria: I-Care-to-Know, a Healthy Beginning Initiative.

BMC Pregnancy Childbirth. 2021-7-8

[9]
Implementing newborn screening for sickle cell disease as part of immunisation programmes in Nigeria: a feasibility study.

Lancet Haematol. 2020-7

[10]
Paper-based microchip electrophoresis for point-of-care hemoglobin testing.

Analyst. 2020-3-3

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