DNA based-tests; buccal swab; sickle cell anemia; umbilical cord blood; venous blood; Immunology and Allergy; Hematology; Public Health, Environmental and Occupational Health; Clinical Biochemistry; Medical Laboratory Technology; Biochemistry (medical); Microbiology (medical)
Abstract :
[en] BACKGROUND: Hemoglobin-based tests form the reference diagnostic test for SCA. In limited resource countries, these tests face limitations including cost, low sensitivity due to recurrent transfusions in endemic malaria region, and interference from fetal hemoglobin in neonatal diagnostic. This study aimed at adapting DNA-based SCA tests to limited resource countries and evaluating the economic benefit.
METHODS: 338 participants were recruited in the Democratic Republic of Congo, sorted in 3 cohorts based on venous blood, umbilical cord blood (UCB) and buccal swab sampling. RFLP was performed to identify mutated allele. The feasibility and technical validity of this RFLP was evaluated for specimens collected on DBS cards and on EDTA tubes. RFLP on DBS stored at room temperature was regularly repeated to assess sample conservation. Finally, the cost analysis was performed.
RESULTS: DBS cards yielded identical results to extracted DNA. Repeated testing returned the same result after four years. The DBS-based test performed on UCB or on buccal swab had a sensitivity and a precision of 100%. Cost comparison indicated that our approach costs half price of the widely used isoelectrofocussing of hemoglobin.
CONCLUSION: The implemented DNA-based test approach overcomes the limitations faced by hemoglobin-based tests, while being more affordable. We propose to implement the RFLP test as a first line diagnostic test after transfusion and as second tiers for newborn screening. However, users should be aware that this test is unable to differentiate HbC from HbS or identify other point mutation of gene deletion of HBB gene.
Research Center/Unit :
GIGA-AUHG - GIGA Cancer-Human Genetics - ULiège
Disciplines :
Laboratory medicine & medical technology
Author, co-author :
Ngole, Mamy ; Center for Human Genetics, Faculty of Medicine, KU Leuven, Leuven, Belgium ; Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo ; Department of Medical Biology, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo
Race, Valerie; Center for Human Genetics, Faculty of Medicine, KU Leuven, Leuven, Belgium
Mbayabo, Gloire ; Center for Human Genetics, Faculty of Medicine, KU Leuven, Leuven, Belgium ; Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo ; Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo
Lumbala, Paul; Center for Human Genetics, Faculty of Medicine, KU Leuven, Leuven, Belgium ; Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo ; Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo
Songo, Cathy; Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo
Lukusa, Prosper Tshilobo; Center for Human Genetics, Faculty of Medicine, KU Leuven, Leuven, Belgium ; Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo ; Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo
Devriendt, Koenraad; Center for Human Genetics, Faculty of Medicine, KU Leuven, Leuven, Belgium
Matthijs, Gert; Center for Human Genetics, Faculty of Medicine, KU Leuven, Leuven, Belgium
Lumaka Zola, Aimé ; Centre Hospitalier Universitaire de Liège - CHU ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Génétique humaine ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > GIGA-R : Génétique humaine
Language :
English
Title :
DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of Congo.
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