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Blood, 1 December 2008, Vol. 112, No. 12, pp. 4542-4545.
Prepublished online as a Blood First Edition Paper on July 24, 2008; DOI 10.1182/blood-2008-03-144691.


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Brief Report

Factor H, membrane cofactor protein, and factor I mutations in patients with hemolysis, elevated liver enzymes, and low platelet count syndrome

Fadi Fakhouri1, Mathieu Jablonski1, Jacques Lepercq2, Jacques Blouin3, Alexandra Benachi4, Maryvonne Hourmant5, Yves Pirson6, Antoine Dürrbach7, Jean-Pierre Grünfeld1, Bertrand Knebelmann1, and Véronique Frémeaux-Bacchi3,8

1 Université Paris Descartes, Assistance Publique–Hopitaux de Paris (AP-HP), Hôpital Necker, Department of Nephrology, and Inserm U845, Paris, France; 2 Department of Gynecology and Obstetrics, Hôpital Saint-Vincent de Paul, Paris, France; 3 AP-HP, Department of Immunology, Hopital Européen Georges Pompidou, Paris, France; 4 Department of Gynecology and Obstetrics, Hôpital Necker, Paris, France, 5 Department of Nephrology, Centre Hospitalier Universitaire (CHU), Nantes, France; 6 Department of Nephrology, Université Catholique de Louvain, Brussels, Belgium; 7 Department of Nephrology, CHU Bicêtre, Le Kremlin Bicêtre, France; and 8 Centre de Recherche des Cordeliers, Inserm Unité Mixte de Recherche en Santé (UMRS) 872, Paris, France

The HELLP syndrome, defined by the existence of hemolysis, elevated liver enzymes, and low platelet count, is a serious complication of pregnancy-related hypertensive disorders and shares several clinical and biologic features with thrombotic microangiopathy (TMA). Several recent studies have clearly shown that an abnormal control of the complement alternative pathway is a major risk for the occurrence of a peculiar type of TMA involving mainly the kidney. The aim of this study was to screen for complement abnormalities in 11 patients with HELLP syndrome and renal involvement. We identified 4 patients with a mutation in one of the genes coding for proteins involved in the regulation of the alternative pathway of complement. Our results suggest that an abnormal control of the complement alternative pathway is a risk factor for the occurrence of HELLP syndrome.


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