Functional Evaluation of Factor H genetic and Acquired Abnormalities: Application for Atypical Hemolytic Uremic Syndrome (aHUS)

  • Lubka T. Roumenina
  • Roxane Roquigny
  • Caroline Blanc
  • Nelly Poulain
  • Stéphanie Ngo
  • Marie-Agnès Dragon-Durey
  • Véronique Frémeaux-Bacchi
Part of the Methods in Molecular Biology book series (MIMB, volume 1100)


The atypical hemolytic uremic syndrome (aHUS) is a paradigm of a disease, caused by overactivation of the alternative complement pathway secondary to a not well-understood trigger event. About 60 % of the patients present genetic or acquired abnormalities in the proteins of the alternative complement pathway. In 40 % of the cases the affected protein is the complement regulator Factor H (FH)—30 % due to mutations and 10 % because of anti-FH autoantibodies. Here we describe the detailed protocol for a rapid test to analyse the functional defect associated with genetic or acquired FH-related abnormalities. It can be applied for the characterization of the underlying complement defect in aHUS, based on spontaneous lysis of non-sensitized sheep erythrocytes in contact with patients’ plasma or serum.

Key words

Complement aHUS C3 Endothelium FH Disease risk Therapy 


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Copyright information

© Springer Science+Business Media, New York 2014

Authors and Affiliations

  • Lubka T. Roumenina
    • 1
  • Roxane Roquigny
    • 2
  • Caroline Blanc
    • 1
  • Nelly Poulain
    • 3
  • Stéphanie Ngo
    • 3
  • Marie-Agnès Dragon-Durey
    • 4
    • 5
    • 6
  • Véronique Frémeaux-Bacchi
    • 7
  1. 1.Cordeliers Research Center, INSERM UMRS 872Université Pierre et Marie Curie, and Université Paris DescartesParisFrance
  2. 2.Cordeliers Research CenterUniversité Pierre et Marie Curie, Université Paris DescartesParisFrance
  3. 3.Service d’Immunologie BiologiqueHôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de ParisParisFrance
  4. 4.Cordeliers Research CenterINSERM UMRS 872ParisFrance
  5. 5.Université Paris Descartes, Sorbonne Paris CitéParisFrance
  6. 6.Assitance Publique-Hopitaux de Paris Hopit al Europeen Georges-PompidouService d’Immunologie BiologiqueParis CedexFrance
  7. 7.Assitance Publique-Hopitaux de Paris Hopit al Europeen Georges-PompidouService d’Immunologie Biologique, APHPParisFrance

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