Neonatal Screening for Sickle Cell Disease in Congo

Dokékias, Alexis Elira; Gokaba, Lethso Thibaut Ocko; Louokdom, Josué Simo; Ngolet, Lydie Ocini; Tsiba, FO Galiba Atipo; Ibatta, Coreillia Irène Ondzotto; Kouandzi, Quentin Ngoma; Tamekue, Serge Talomg; Bango, Jayne Chelsea; Mboumba, Jade Vanessa Nziengui; Kobawila, Simon Charles

doi:10.1155/2022/9970315

Cited by 8 publications

(9 citation statements)

References 25 publications

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“… 38 For the Republic of Congo, a study was conducted in 12 departments in the entire national territory of Congo, and SCD was prevalent. 26 In Malawi, a study was conducted in the central region of Malawi, and α-thalassemia was prevalent. 37 In Sierra Leone, a study was conducted on selected participants from the rural and urban areas, and β-thalassaemia was prevalent.…”

Section: Resultsmentioning

confidence: 99%

“…Promoting pilot programmes is another strategy for expanding haemoglobinopathy detection in Africa. Newborn screening programme pilot initiatives for haemoglobinopathies are being implemented in Angola, 27 Nigeria, 59 Ghana, 60 the Democratic Republic of Congo, 26 , 61 and the Republic of Benin. 30 However, many African countries do not have universal national NBS programmes for SCD and other haemoglobinopathies.…”

Section: Discussionmentioning

confidence: 99%

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Bridging the gaps in newborn screening programmes: Challenges and opportunities to detect haemoglobinopathies in Africa

Twum,

Fosu,

Felder

et al. 2023

African Journal of Laboratory Medicine

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Background: Haemoglobinopathies, including sickle cell disease and β-thalassaemia, are monogenic disorders with a relatively higher prevalence among malaria-endemic areas in Africa. Despite this prevalence, most African countries lack the necessary resources for diagnosing and managing these debilitating conditions.Aim: This study provides a critical review of newborn screening for detecting haemoglobinopathies in Africa, highlighting challenges and proposing strategies for improved diagnosis and management.Methods: A literature search on haemoglobinopathies in Africa was conducted in PubMed, Google Scholar and ScienceDirect, using specific keywords and Boolean operators, including articles published from January 1981 to December 2022.Results: The data show that sickle cell disease is prevalent among populations in Central and West Africa; however, β-thalassaemia is prevalent among people in the northern parts of Africa. Newborn screening pilot initiatives for haemoglobinopathies were being implemented in Angola, Nigeria, Ghana, the Democratic Republic of Congo and the Republic of Benin. The cost of testing, lack of sufficient and accessible medical records, and inadequacy in healthcare infrastructure pose significant challenges in bridging the gaps in newborn screening. Furthermore, the stigmatisation and lack of awareness of haemoglobinopathies and access to newborn screening programmes pose additional challenges.Conclusion: This review highlights the challenges associated with haemoglobinopathy testing, effective strategies for mitigating these challenges, and future perspectives for expanding efforts toward detecting and managing these disorders across Africa. Providing affordable diagnostic tools, mobile clinics, government subsidies, education campaigns, and the implementation of electronic medical records systems could help bridge the gaps in newborn screening in Africa.What this study adds: The study presents a comprehensive view of newborn screening of haemoglobinopathies in Africa, provides a detailed outline of the challenges faced by newborn screening for haemoglobinopathies in Africa, and offers strategies for better diagnosis and care.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Bridging the gaps in newborn screening programmes: Challenges and opportunities to detect haemoglobinopathies in Africa

Twum,

Fosu,

Felder

et al. 2023

African Journal of Laboratory Medicine

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“…In the newborn screening study for a type of sickle cell disease, sickle cell anemia, conducted by Panigrahi, (2012) Another, more recent study by Dokekias et al, (2022) with 2,897 children, aged 5 days or less, between October 1, 2019 and March 31, 2020, where blood samples were collected and analyzed using the high-performance liquid chromatography (HPLC) machine. As a result, hemoglobin abnormalities were found in 20.81% of the newborns, the main hemoglobin was Hb S, which corroborates the neonatal screening data obtained in the study by Panigrahi (2012).…”

Section: Integrative Reviewmentioning

confidence: 99%

Integrative review evaluation of newborn screening for the diagnosis of sickle cell anemia

Alves,

Ribeiro,

Alves

2024

Challenges and Innovations in Education: Scientific Perspectives

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INTRODUCTION: Sickle cell anemia is a hereditary, chronic hemoglobinopathy, defined as a hemolytic anemia, caused by a deformation in the structure of erythrocytes due to the production of Hb “S”, changing the natural biconcave format, to a “sickle” or “sickle” shape. half Moon". Data show that sickle cell anemia reached in the period from 2014 to 2020, the annual average of 1,087 new cases of children diagnosed with sickle cell disease. The test for initial diagnosis is the so-called “Heel Foot Test”, which comes from neonatal screening and is performed using the High Performance Liquid Chromatography method. PURPUROSE: The objective of this work is to carry out an integrative review on the evaluation of neonatal screening for the diagnosis of sickle cell anemia. METHODS: This is an integrative literature review. The survey of scientific articles was carried out using the descriptors: “Neonatal screening”; “sickle cell anemia”; “Neonatal screening”; and “sickle cell anemia”, using the Boolean operator “AND”, in the Scientific Electronic Library Online (SciELO) and PubMed databases; in the period from April 1 to May 20, 2023 RESULTS: A total of 234 articles were found, of which 84 were excluded for not meeting the inclusion criteria (complete and free articles and temporal cut), leaving 150 publications. Of these, 100 articles were excluded, according to pre-established criteria and after reading the titles and abstracts of articles that did not meet the initial theme of this study. 50 works were submitted to readability evaluation, culminating with a quantitative of only 11 scientific articles included as object of study in this integrative review, being (2) Scielo and (9) PubMed. CONCLUSION: Therefore, all the studies analyzed in this review demonstrated the importance of the presence and performance of neonatal screening for genetic diseases, especially for sickle cell anemia, since early detection of this chronic and severe disease is essential. This screening and subsequent early clinical intervention can reduce infant mortality, minimize comorbidities, generating better quality and increased life expectancy for patients with this main type of hemoglobinopathy.

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“…Sickle cell disease is a genetic disease of hemoglobin (Hb) that causes the synthesis of a modified Hb called Hb S. It is the world's most common hemoglobinopathy, especially in sub-Saharan Africa, where 85% of children affected by the disease are born [ 1 , 2 ]. In the Congo, homozygous and heterozygous affect, respectively, 1.25% and 25% of the population [ 3 ]. In their deoxygenated form, Hb S molecules have the property of polymerizing to form intracellular crystals that deform the red blood cell (RBC), giving it its characteristic sickle shape.…”

Section: Introductionmentioning

confidence: 99%

Associated Factors of Cholelithiasis among Younger Children with Sickle Cell Disease at the National Reference Center for Sickle Cell Disease in Brazzaville, Congo

Galiba Atipo Tsiba,

Mikia,

Elira Samba

et al. 2023

Anemia

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Introduction. Chronic hemolysis predisposes sickle cell patients to the development of gallstones. Their frequency increases with age, but they may appear early in young children. In the absence of management, they expose the patient to complications that can hinder the quality of life and sometimes even death. This survey aimed to identify the associated factors of the occurrence of cholelithiasis. Materials and Methods. It was a case-control study carried out between January 2017 and June 2022 at the National Reference Center for Sickle Cell Disease (SCD) “Antoinette Sassou N’guesso” in Brazzaville. It concerned 37 children with cholelithiasis. Sociodemographic (socioeconomic status and diet) and clinical (body mass index, frequency of vasoocclusive crises and hospitalization for vasoocclusive crises, number of blood transfusion, and chronic complications) as well as hematological examination (type of SCD and blood count in the intercritical period) and hydroxyurea treatment were compared with those of 74 children with no clinical and radiographic signs of cholelithiasis. The chi-squared statistical test and the odds ratio were used for the comparison ( p < 0.05 ). Results. The average age was 9.70 ± 1.73 years. The 10–12 age group was the most represented (22 cases or 59.45%), followed by 7- to 9-year-olds (12 cases or 32.43%). Three children (8.10%) were 6 years old. The sex ratio was 0.68 vs. 1.38. Factors associated with cholelithiasis were low socioeconomic status (83.78% vs. 45.95%; IC 95% 1.46−3.89; p ≤ 0.001 ), a higher number of blood transfusions (5.54 ± 1.22 vs. 2.46 ± 1.13; IC 95% 1.55−6.70; p ≤ 0.001 ), and irregular systematic monitoring (5.54 ± 1.22 vs. 2.46 ± 1.13; IC 95% 1.55−6.70; p ≤ 0.001 ). Conclusion. A national strategy to facilitate access to care for patients living with sickle cell disease is imperative. Moreover, emphasis should be placed on the prevention and early management of acute complications of SCD.

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Neonatal Screening for Sickle Cell Disease in Congo

Cited by 8 publications

References 25 publications

Bridging the gaps in newborn screening programmes: Challenges and opportunities to detect haemoglobinopathies in Africa

Bridging the gaps in newborn screening programmes: Challenges and opportunities to detect haemoglobinopathies in Africa

Integrative review evaluation of newborn screening for the diagnosis of sickle cell anemia

Associated Factors of Cholelithiasis among Younger Children with Sickle Cell Disease at the National Reference Center for Sickle Cell Disease in Brazzaville, Congo

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