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Somatic mutations in Brazilian patients with paroxysmal nocturnal hemoglobinuria: a comprehensive analysis.
Front Med (Lausanne)
February 2025
Department of Hematology, Universidade Federal de São Paulo/Escola Paulista de Medicina, São Paulo, Brazil.
Background: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare clonal hematopoietic stem cell disease characterized by acquired abnormalities in the phosphatidylinositol glycan class A () gene.
Methods: This study analyzed gene using polymerase chain reaction (PCR) followed by Sanger sequencing of 31 Brazilian patients with PNH, including 23 with classical PNH and 8 with subclinical PNH (aplastic anemia and a PNH clone).
Results: A diverse spectrum of acquired variants was identified, encompassing insertions, deletions, and single-base substitutions.
[Advances in complement inhibition therapy for paroxysmal nocturnal hemoglobinuria].
Zhonghua Xue Ye Xue Za Zhi
January 2025
National Clinical Research Center for Blood Diseases, State Key Laboratory of Experimental Hematology, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China Tianjin Institutes of Health Science, Tianjin 301600, China.
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematologic disorder. Historically, most PNH patients mainly received supportive treatment, which led to poor quality of life and high mortality rates. The advent of downstream complement C5 inhibitors has dramatically changed the natural course of PNH.
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Gastroenterology
March 2025
Department of Gastroenterology, West China Hospital, Sichuan University, Sichuan Province, China. Electronic address:
[Paroxysmal nocturnal dyspnoea: beyond pulmonary causes].
MMW Fortschr Med
March 2025
Klinik für Kardiologie und Angiologie, Medizinische Hochschule Hannover, Hannover, Deutschland.
Pegcetacoplan for Breakthrough Hemolysis in an Adolescent With Classical Paroxysmal Nocturnal Hemoglobinuria on Eculizumab.
Pediatr Blood Cancer
March 2025
BC Children's Hospital, Vancouver, British Columbia, Canada.
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