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
Emmanuel Tebandite Kasai,
Justin Ntokamunda Kadima,
Jean Pierre Alworong’a Opara,
François Boemer,
Marie Françoise Dresse,
Julie Makani,
Vincent Bours,
Roland Marini Djang’eing’a,
Kambale-Kombi Paul,
Salomon Batina Agasa
Affiliations
Emmanuel Tebandite Kasai
Department of Pediatrics, Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo
Justin Ntokamunda Kadima
Department of Pharmacy, Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo
Jean Pierre Alworong’a Opara
Department of Pediatrics, Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo
François Boemer
Biochemical Genetics Laboratory, Human Genetics, CHU of Liège, University of Liège, Liège, Belgium
Marie Françoise Dresse
Department of Pediatrics, Faculty of Medecine, University of Liège, Liège, Beligium
Julie Makani
Muhimbili Wellcome Programme, Department of Haematology and Blood Transfusion, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania
Vincent Bours
Department of Human Genetics, Human Genetic Center, CHU, University of Liège, Liège, Belgium
Roland Marini Djang’eing’a
Department of Pharmacy, Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo
Kambale-Kombi Paul
Department of Internal Medicine, Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo
Salomon Batina Agasa
Department of Internal Medicine, Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo
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.
