DR Congo; Sickle cell anemia; low income population; rural hospital; severity score; Fetal Hemoglobin; Male; Female; Humans; Child; Cross-Sectional Studies; Democratic Republic of the Congo/epidemiology; Fetal Hemoglobin/genetics; Anemia, Sickle Cell/epidemiology; Anemia, Sickle Cell/genetics; Anemia, Sickle Cell/complications; Anemia, Sickle Cell; Democratic Republic of the Congo; Hematology
Abstract :
[en] [en] BACKGROUND: Sickle Cell Anemia (SCA) is the most common genetic disease worldwide caused by a single mutation in the gene HBB. The disease severity is very variable and depends on many factors. We evaluated the clinical and biological profile of sickle cell anemia children in rural Central Africa.
METHODS: This cross-sectional study was conducted in the Hôpital Saint Luc de Kisantu, located 120 km away from Kinshasa-DR Congo in an area of 35 km around Kisantu with a population of roughly 80 000 individuals. We included SCA patients aged 6 months to 18 years. We collected clinical and hematological data. The SCA scoring system proposed by Adegoke et al. in 2013 was applied to determine the disease severity. We searched for factors associated to the disease severity.
RESULTS: This study included 136 patients, 66 males and 70 females (sex-ratio M/F 0.94). The mean severity score was 8.21 ± 5.30 (ranges 0-23). Fifty-nine (43.4%) children had mild disease, 62 (45.6%) moderate and 15 (11%) severe disease. Girls had higher levels of HbF than boys (p = 0.003). An inverse correlation was observed between fetal hemoglobin and the disease severity (p = 0.005, r -0.239, IC95% -6.139; -1.469). Some factors such age influence the occurrence of certain chronic complications such as avascular bone necrosis.
CONCLUSION: In conclusion, the disease severity of SCA depends on multiple factors. In this study, fetal hemoglobin was the main modulator of the disease severity. These data may also serve as a baseline to initiate HU treatment in this setting.
Disciplines :
Laboratory medicine & medical technology
Author, co-author :
Mbayabo, Gloire ; Department of Pediatrics, University of Kinshasa, Kinshasa, Democratic Republic of the 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 the Congo
Ngole, Mamy ; Center for Human Genetics, KU Leuven and University Hospitals Leuven, Leuven, Belgium ; Department of Clinical Biology, University of Kinshasa, Kinshasa, Democratic Republic of the Congo ; Center of Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of the Congo
Lumbala, Paul Kabuyi ; Department of Pediatrics, University of Kinshasa, Kinshasa, Democratic Republic of the 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 the Congo
Lumaka Zola, Aimé ; Centre Hospitalier Universitaire de Liège - CHU > > Service de génétique ; Department of Pediatrics, University of Kinshasa, Kinshasa, Democratic Republic of the Congo ; Center of Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of the Congo
Race, Valerie ; Center for Human Genetics, KU Leuven and University Hospitals Leuven, Leuven, Belgium
Matthijs, Gert ; Center for Human Genetics, KU Leuven and University Hospitals Leuven, Leuven, Belgium
Mikobi, Tite Minga ; Center of Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of the Congo ; Département des sciences de base, Laboratory of biochemistry and molecular biology, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of the Congo
Devriendt, Koenraad ; Center for Human Genetics, KU Leuven and University Hospitals Leuven, Leuven, Belgium
Van Geet, Chris ; Department of Cardiovascular Sciences and Pediatrics (Hemato-oncology), KU Leuven and University Hospitals Leuven, Leuven, Belgium
Lukusa, Prosper Tshilobo ; Department of Pediatrics, University of Kinshasa, Kinshasa, Democratic Republic of the 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 the Congo
Language :
English
Title :
Clinical and biological profile of Sickle Cell Anemia children in a rural area in Central Africa.
This study was funded by Vlaamse Interuniversitaire Raad (VLIRUOS), and supported by the Chair ‘Genetics in the DR Congo’ (KU Leuven, holder K. Devriendt). We are grateful to The parents of SCA children who accepted to participate in this study. All the staff of pediatrics service of Kisantu Saint Luc Hospital. Cathy Songo, technician at the Center for Human Genetics, University of Kinshasa. Authors contributions: Data collection: Gloire Mbayabo. Drafting: Gloire Mbayabo, Mamy Ngole Zita, Paul Lumbala Kabuyi, Koenraad Devriendt, Chris Van Geet, Prosper Tshilobo Lukusa. Laboratory diagnosis of sickle cell disease: Gloire Mbayabo, Mamy Ngole. Conception and design of the study, review of the manuscript: Gloire Mbayabo, Mamy Ngole Zita, Paul Lumbala Kabuyi, Aimé Lumaka, Valerie Race, Gert Matthijs, Tite Mikobi Minga, Koenraad Devriendt, Prosper Tshilobo Lukusa, Chris Van Geet. All authors revised and approved the final version of the manuscript.
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