Centenary of the UCT Faculty of Health Sciences
Complement component C5 and C6 mutation screening indicated in meningococcal disease in South Africa
Abstract
Objective. To determine the frequency of specific disease-associated C5 and C6 gene mutations in patients presenting with MD in the Western Cape.
Results. In 109 patients with confirmed invasive MD investigated for local mutations known to cause C5D and C6Q0, 3 were C5D and 11 were C6Q0. In 46 black patients tested, 3 were C5D and 7 were C6Q0. In 63 coloured patients, none were C5D and 4 were C6Q0. All deficient patients were followed up and offered prophylaxis.
Conclusion. C5D and C6Q0 are not rare genetic diseases in South Africa and affected patients are susceptible to repeated MD; 12.8% of MD patients tested were C5D or C6Q0. Blacks were at greatest risk with 21.7% being either C5D or C6Q0. We strongly recommend diagnostic testing for complement C5 and C6 deficiency in the routine work-up of all MD cases in South Africa. Prophylactic treatment should be started in susceptible individuals.
Authors' affiliations
E P Owen, Division of Chemical Pathology, Department of Clinical Laboratory Sciences, University of Cape Town and National Health Laboratory Service
F Leisegang, Division of Chemical Pathology, Department of Clinical Laboratory Sciences, University of Cape Town and National Health Laboratory Service
A Whitelaw, Division of Microbiology, Department of Clinical Laboratory Sciences, University of Cape Town, and National Health Laboratory Service
J Simpson, Division of Microbiology, Department of Clinical Laboratory Sciences, University of Cape Town, and National Health Laboratory Service
S Baker, Allergy Diagnostic and Clinical Research Unit, University of Cape Town Lung Institute, Department of Medicine, University of Cape Town
R Würzner, Division of Hygiene and Medical Microbiology, Innsbruck Medical University, Innsbruck
P Potter, Allergy Diagnostic and Clinical Research Unit, University of Cape Town Lung Institute, Department of Medicine, University of Cape Town
A Orren, Institute of Infection and Immunity, Cardiff University, UK; Allergy Diagnostic and Clinical Research Unit, University of Cape Town Lung Institute, Department of Medicine, University of Cape Town; Division of Chemical Pathology, Department of Clinical Lab
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Date published: 2012-05-23
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