Complement component C5 and C6 mutation screening indicated in meningococcal disease in South Africa

• Published in: South African medical journal 2012-06, Vol.102 (6), p.525-527
• Main Authors: Owen, E P, Leisegang, F, Whitelaw, A, Simpson, J, Baker, S, Würzner, R, Potter, P, Orren, A
• Format: Article
• Language: English
• Subjects: African Continental Ancestry Group - genetics; Complement C5 - genetics; Complement C5 - metabolism; Complement C6 - genetics; Diagnosis; Gene mutations; Genetic aspects; Genetic Predisposition to Disease; Genetic Testing; Humans; Infant; Infant, Newborn; Management; Meningitis, Meningococcal - ethnology; Meningitis, Meningococcal - genetics; Meningococcal infections; Mutation; Physiological aspects; Sequence Analysis, DNA; South Africa; Universities and colleges
• ISSN: 0256-9574
• DOI: 10.7196/samj.5571

Invasive meningococcal disease (MD), caused by Neisseria meningitidis infection, is endemic in South Africa, with a seasonal peak in winter and spring. There were 2 432 laboratory-confirmed cases between 2006 and 2010. Human deficiency of the fifth complement component (C5D) or complete absence of the sixth component (C6Q0) leads to increased risk of MD, which is often recurrent. All attacks are serious and can lead to death or severe long-term consequences. To determine the frequency of specific disease-associated C5 and C6 gene mutations in patients presenting with MD in the Western Cape. 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. 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.