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

E P Owen1, F Leisegang, A Whitelaw

  • 1Division of Chemical Pathology, Department of Clinical Laboratory Sciences, University of Cape Town. tricia.owen@uct.ac.za

South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde
|June 7, 2012
PubMed
Abstract

Insights

Complement component deficiencies, specifically C5D and C6Q0, are not rare in South Africa and increase the risk of invasive meningococcal disease (MD). Testing for these genetic conditions is recommended for all MD patients, especially in Black populations.

Area of Science:

  • Immunology
  • Genetics
  • Infectious Diseases

Background:

  • Invasive meningococcal disease (MD) is endemic in South Africa, with seasonal peaks.
  • Deficiencies in complement components C5 (C5D) or C6 (C6Q0) significantly elevate the risk of recurrent and severe MD.
  • MD can result in fatal outcomes or severe long-term health consequences.

Purpose of the Study:

  • To investigate the prevalence of specific C5 and C6 gene mutations in patients diagnosed with invasive MD in the Western Cape, South Africa.
  • To assess the frequency of complement component deficiencies (C5D, C6Q0) in patients with invasive meningococcal disease.

Main Methods:

  • Genetic analysis of C5 and C6 genes in 109 patients with confirmed invasive MD.
  • Stratification of results based on patient ethnicity (Black and Coloured populations).
  • Follow-up of deficient patients to offer prophylactic treatment.

Main Results:

  • Out of 109 patients, 14 (12.8%) exhibited complement deficiencies: 3 with C5D and 11 with C6Q0.
  • Among 46 Black patients, 10 (21.7%) had C5D or C6Q0.
  • Among 63 Coloured patients, 4 (6.3%) had C6Q0; none had C5D.

Conclusions:

  • Complement component deficiencies C5D and C6Q0 are relatively common in South Africa, predisposing individuals to recurrent invasive MD.
  • Black individuals in South Africa are at a higher risk, with over 21% presenting with C5D or C6Q0.
  • Routine diagnostic testing for C5 and C6 deficiency is strongly recommended for all MD cases in South Africa, with prophylactic treatment for affected individuals.

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