Robert A. Brodsky, MD
Grant Support: From the National Institutes of Health (P01CA70970).
Potential Financial Conflicts of Interest:Consultancies: Alexion Pharmaceuticals. Honoraria: Alexion Pharmaceuticals. Grants received: National Institutes of Health. Patents received: U.S. patent number 6 393 095 B1 for detection of GPI-anchored proteins.
Requests for Single Reprints: Robert A. Brodsky, MD, Division of Hematology, Johns Hopkins Medicine, Ross Research Building Room 1025, 720 Rutland Avenue, Baltimore, MD 21205-2196; e-mail, firstname.lastname@example.org.
Brodsky R.; Narrative Review: Paroxysmal Nocturnal Hemoglobinuria: The Physiology of Complement-Related Hemolytic Anemia. Ann Intern Med. 2008;148:587-595. doi: 10.7326/0003-4819-148-8-200804150-00003
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Published: Ann Intern Med. 2008;148(8):587-595.
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematopoietic stem-cell disorder caused by a somatic mutation in a gene known as phosphatidylinositol glycan class A (PIGA). It may arise de novo or in the setting of acquired aplastic anemia.
Clinical presentation can include hemolytic anemia, hemoglobinuria, thrombosis, severe fatigue, abdominal pain, and esophageal spasm.
Thrombosis, the leading cause of death from PNH, most commonly occurs in abdominal and cerebral veins.
Therapeutic options include supportive care, bone marrow transplantation, and monoclonal antibody therapy with the terminal complement inhibitor eculizumab.
The product of the PIGA gene is required for the biosynthesis of a glycolipid anchor that attaches a class of membrane proteins known as glycosylphosphatidylinositol (GPI)– anchored proteins to the cell surface.
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Hematology/Oncology, Red Cell Disorders.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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