Value of DNA testing in the diagnosis of sickle-cell anemia in childhood in an environment with a high prevalence of other causes of anemia.

Autor: Mbayabo G; Department of Pediatrics, University of Kinshasa, Kinshasa, Democratic Republic of Congo.; Center for Human Genetics, KU Leuven and University Hospitals Leuven, Leuven, Belgium.; Center of Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo., Lumbala Kabuyi P; Department of Pediatrics, University of Kinshasa, Kinshasa, Democratic Republic of Congo.; Center for Human Genetics, KU Leuven and University Hospitals Leuven, Leuven, Belgium.; Center of Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo., Ngole M; Center for Human Genetics, KU Leuven and University Hospitals Leuven, Leuven, Belgium.; Center of Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.; Department of Clinical Biology, University of Kinshasa, Kinshasa, Democratic Republic of Congo., Lumaka A; Department of Pediatrics, University of Kinshasa, Kinshasa, Democratic Republic of Congo.; Center of Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.; Human Genetic Laboratory, GIGA Institute, University of Liège, Liège, Belgium., Race V; Center for Human Genetics, KU Leuven and University Hospitals Leuven, Leuven, Belgium., Maisin D; Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Louvain-la-Neuve, Belgium., Gruson D; Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Louvain-la-Neuve, Belgium., Matthijs G; Center for Human Genetics, KU Leuven and University Hospitals Leuven, Leuven, Belgium., Minga TM; Center of Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.; Département des sciences de base, Laboratory of biochemistry and molecular biology; Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo., Devriendt K; Center for Human Genetics, KU Leuven and University Hospitals Leuven, Leuven, Belgium., Van Geet C; Department of Cardiovascular Sciences and Pediatrics (Hemato-oncology), KU Leuven and University Hospitals Leuven, Leuven, Belgium., Tshilobo PL; Department of Pediatrics, University of Kinshasa, Kinshasa, Democratic Republic of Congo.; Center for Human Genetics, KU Leuven and University Hospitals Leuven, Leuven, Belgium.; Center of Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.
Jazyk: angličtina
Zdroj: Journal of clinical laboratory analysis [J Clin Lab Anal] 2022 Aug; Vol. 36 (8), pp. e24593. Date of Electronic Publication: 2022 Jul 12.
DOI: 10.1002/jcla.24593
Abstrakt: Background: Sickle-cell anemia (SCA) is the most common genetic disease worldwide caused by a single mutation in the gene HBB. DNA testing can help to clarify the diagnosis when Hb electrophoresis is inconclusive. We evaluated the usefulness and feasibility of DNA-based diagnosis of SCA in rural Central Africa.
Methods: This is a cross-sectional study conducted from November 2016 to end October 2017 in the Hôpital Saint Luc de Kisantu, located 120 km 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 months to 18 years 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.
Results: 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/β°-thalassemia. The diagnosis of SCA was therefore wrongly ascertained with Emmel test in 15% of patients.
Conclusion: This study reveals a high proportion of false-positive SCA diagnoses in a rural environment in Central Africa. This underlines the importance of DNA testing in conjunction with Hb electrophoresis.
(© 2022 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals LLC.)
Databáze: MEDLINE
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