Article (Scientific journals)
Pairing parents and offspring's HemoTypeSC Test to validate results and confirm sickle cell pedigree:  a case study in Kisangani, the Democratic Republic of the Congo.
Kasai, Emmanuel Tebandite; Kadima, Justin Ntokamunda; Alworong'a Opara, Jean Pierre et al.
2022In Hematology (Amsterdam, Netherlands), 27 (1), p. 853-859
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Keywords :
HemoTypeSC; offspring pedigree; Democratic Republic of the Congo; Sickle cell disease; Kisangani
Abstract :
[en] ("[en] OBJECTIVES: HemoTypeSCTM is one of the immunoassay methods currently used for the early diagnosis of Sickle Cell Disease (SCD) in newborns. Earlier diagnosis remains the key strategy for early preventive care needs and parents' education about the child's future well-being throughout his life. Before considering these children as sick and aligning them for regular medical monitoring, it may be valuable to confirm the HemoTypeSC result with a secondary laboratory testing method. In resource-limited settings, where confirmatory methods are not always available, we propose testing the parents to validate the HemoTypeSC result. METHODS: This study explored this approach in the city of Kisangani. It was a prospective diagnostic accuracy study using genotype biological parents to evaluate HemoTypeSC's performance in the newborn. RESULTS: Fifty-eight children born to 46 known mothers, and 37 known fathers, have been tested. The phenotyping showed that 41 (70.7%) children were SS, whose 37 were born to a couple AS/AS and 4 to a couple AS/xx. Of the 41 SS children, 8 (19.5%) were newborns and 33 (80.4%) were children; 12 (20.6%) children were AS, one of whom was born to a couple SS/AA and 11 to a couple AA/SS; 5 (8.6%) children were AA. In this population, the probability of offspring born to AS/AS parents being SS rather than AS is high (odds, 1.25). No statistical difference was observed between girls and boys. The pedigree of all 58 children has been confirmed. CONCLUSION: We demonstrated that testing biological parents with HemoTypeSC is a reliable confirmatory method for newborn screening but it presents some limitations discussed in the present article.","[en] ","")
Research center :
CIRM - Centre Interdisciplinaire de Recherche sur le Médicament - ULiège
Disciplines :
Pediatrics
Author, co-author :
Kasai, Emmanuel Tebandite ;  Department of Pediatrics, Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo
Kadima, Justin Ntokamunda;  Department of Pharmacy, Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo
Alworong'a Opara, Jean Pierre;  Department of Pediatrics, Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo
Boemer, François  ;  Centre Hospitalier Universitaire de Liège - CHU > > Service de génétique
Dresse, Marie Françoise;  Department of Pediatrics, Faculty of Medecine, University of Liège, Liège, Beligium
Makani, Julie;  Muhimbili Wellcome Programme, Department of Haematology and Blood Transfusion, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania
Bours, Vincent ;  Centre Hospitalier Universitaire de Liège - CHU > > Service de génétique
Marini Djang'Eing'A, Roland ;  Université de Liège - ULiège > Département de pharmacie > Chimie analytique ; Department of Pharmacy, Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo
Paul, Kambale-Kombi;  Department of Internal Medicine, Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo
Batina Agasa, Salomon;  Department of Internal Medicine, Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo
Language :
English
Title :
Pairing parents and offspring's HemoTypeSC Test to validate results and confirm sickle cell pedigree:  a case study in Kisangani, the Democratic Republic of the Congo.
Publication date :
08 August 2022
Journal title :
Hematology (Amsterdam, Netherlands)
ISSN :
1024-5332
eISSN :
1607-8454
Publisher :
Taylor and Francis Ltd., England
Volume :
27
Issue :
1
Pages :
853-859
Peer reviewed :
Peer Reviewed verified by ORBi
Development Goals :
3. Good health and well-being
4. Quality education
Name of the research project :
DREPAKIS : Contribution à la prise en charge de la drépanocytose dans la ville de Kisangani
Funders :
ARES CCD - Académie de Recherche et d'Enseignement Supérieur. Coopération au Développement [BE]
Funding number :
PRD-2018
Funding text :
The authors are grateful to the Academy of Research and Higher Education of the Belgian Development Cooperation for supporting the PRD-DREPAKIS project and the Synergie Save Drepachild project.
Available on ORBi :
since 26 October 2022

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