{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:46:59Z","timestamp":1786978019041,"version":"build-2736575974"},"reference-count":29,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2022,7,12]],"date-time":"2022-07-12T00:00:00Z","timestamp":1657584000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Sickle\u2010cell anemia (SCA) is the most common genetic disease worldwide caused by a single mutation in the gene\n                      <jats:italic>HBB<\/jats:italic>\n                      . DNA testing can help to clarify the diagnosis when Hb electrophoresis is inconclusive. We evaluated the usefulness and feasibility of DNA\u2010based diagnosis of SCA in rural Central Africa.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This is a cross\u2010sectional study conducted from November 2016 to end October 2017 in the H\u00f4pital Saint Luc de Kisantu, located 120\u2009km from Kinshasa. This hospital offers the management of SCA patients, mainly identified using the Sickling test (Emmel test) combined with clinical features. We included patients aged 6\u00a0months to 18\u2009years locally diagnosed as SCA, and we collected clinical and hematological data. All patients were offered Hb electrophoresis and DNA testing at the Center for Human Genetics of the University of Kinshasa.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>This study included 160 patients. Hemoglobin capillary electrophoresis suggested that 136 (85%) were homozygote SS, 13 (8.1%) were heterozygote (AS), and 11 (6.9%) were homozygote normal (AA). DNA testing confirmed these electrophoresis findings, with the exception of four patients, two AS in electrophoresis were found SS due to recent transfusion, and two SS in electrophoresis were found AS because they have compound heterozygous form S\/\u03b2\u00b0\u2010thalassemia. The diagnosis of SCA was therefore wrongly ascertained with Emmel test in 15% of patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This study reveals a high proportion of false\u2010positive SCA diagnoses in a rural environment in Central Africa. This underlines the importance of DNA testing in conjunction with Hb electrophoresis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jcla.24593","type":"journal-article","created":{"date-parts":[[2022,7,12]],"date-time":"2022-07-12T07:19:53Z","timestamp":1657610393000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Value of DNA testing in the diagnosis of sickle\u2010cell anemia in childhood in an environment with a high prevalence of other causes of anemia"],"prefix":"10.1002","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6887-4092","authenticated-orcid":false,"given":"Gloire","family":"Mbayabo","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Kinshasa  Kinshasa Democratic Republic of Congo"},{"name":"Center for Human Genetics KU Leuven and University Hospitals Leuven  Leuven Belgium"},{"name":"Center of Human Genetics, Faculty of Medicine University 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Louvain\u2010la\u2010Neuve Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Gruson","sequence":"additional","affiliation":[{"name":"Cliniques Universitaires Saint\u2010Luc Universit\u00e9 Catholique de Louvain  Louvain\u2010la\u2010Neuve Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gert","family":"Matthijs","sequence":"additional","affiliation":[{"name":"Center for Human Genetics KU Leuven and University Hospitals Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tite Mikobi","family":"Minga","sequence":"additional","affiliation":[{"name":"Center of Human Genetics, Faculty of Medicine University of Kinshasa  Kinshasa Democratic Republic of Congo"},{"name":"D\u00e9partement des sciences de base, Laboratory of biochemistry and molecular biology; Faculty of Medicine University of Kinshasa  Kinshasa Democratic Republic of 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