Clinical Microbiology: Open Access

Meningococcal disease cases in Western Cape, South Africa screened for genetic deficiencies of complement components C5 and C6

4^th International Conference on Clinical Microbiology and Microbial Genomics

October 05-07, 2015 Philadelphia, USA

Ann Orren

Cardiff University, UK

Posters-Accepted Abstracts: Clin Microbiol

Abstract:

Black African (74) and Cape Colored (80) cases presenting with meningococcal disease (MD) were tested for genetic defects of terminal complement components C5 and C6. The C5 defects comprised known defects p.R1476X, p.Q19X and a third mutation, p.A252T, we believed to be pathogenic. It was originally detected in a black woman who is compound heterozygous (p.Q19X, p.A252T). She has very low C5 levels and had suffered recurrent MD. The C6 genetic defects investigated were the reported protein defects c.1086delA, c.1087delG, c.1403delC and c.2144. Results of genetic testing of 74 Black MD patients for p.A252T showed six children homozygous and C5 deficient. Their C5 levels had a range of the 0.1 to 0.3 μgm /ml (<4% of mean control). The protein is functionally active. Among the same group of black patients another 16 were C6 homozygous deficient (C6D). Among all 74 black patients, 22 (almost 30%) were C5D or C6D and required prophylaxis from further MD infections. Among 80 cape colored patients 8(10%) were C6D. No homozygous C5D colored patients were diagnosed. The reason that p.A252T is pathological and requires further study. Also we do not know how patients in other regions of Africa are affected. The Black Africans in the Cape Town area are mainly Xhosa and descendants of people from regions east and/or north of the Cape Town area. The problem may as well affect other African regions.

Biography :

Email: OrrenA@cardiff.ac.uk