Document Detail

Clinical and molecular aspects of 23 patients affected by paroxysmal nocturnal hemoglobinuria.
MedLine Citation:
PMID:  15307104     Owner:  NLM     Status:  MEDLINE    
We reviewed clinical and molecular data of 23 consecutive unrelated patients affected by paroxysmal nocturnal hemoglobinuria (PNH) (19 with hemolytic PNH, 3 with aplastic anemia/PNH, and 1 with myelodysplasia/PNH syndrome) with a mean follow-up of 11.8 years. Five patients had thrombotic episodes, and 10 needed regular blood transfusions; 2 died for cerebral hemorrhage and kidney failure, and 2 spontaneously recovered from PNH. Twenty different PIG-A gene mutations were detected in 21/23 patients: 15 frameshift, 1 splicing, 2 nonsense, and 2 missense mutations. Two mutations (DelG341 and IVS2 +1g-a) were detected twice. A PIG-A mutated clone was also revealed in the two patients in complete clinical remission. One patient with aplastic anemia/PNH syndrome was treated with two courses of antilymphocyte globulin and cyclosporin with partial sustained response. Six patients were given rHu-EPO 150 U/kg/day s.c. for at least 6 months: one became transfusion-independent for 8 months and then discontinued treatment for clinical complications; one displayed a mean rise of Hb of 1.5 g/dL and is currently maintaining Hb levels higher than 9 g/dL after 54 months of therapy. Mutation specific quantitative-competitive PCR showed that the rise of hemoglobin was related to an increase of PIG-A negative molecules, suggesting that the efficacy of rHu-EPO therapy may be due to the stimulation of the abnormal clone.
Carla Boschetti; Elisa Fermo; Paola Bianchi; Cristina Vercellati; Fiorenza Barraco; Alberto Zanella
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Publication Detail:
Type:  Clinical Trial; Journal Article    
Journal Detail:
Title:  American journal of hematology     Volume:  77     ISSN:  0361-8609     ISO Abbreviation:  Am. J. Hematol.     Publication Date:  2004 Sep 
Date Detail:
Created Date:  2004-08-12     Completed Date:  2004-09-21     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7610369     Medline TA:  Am J Hematol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  36-44     Citation Subset:  IM    
Copyright Information:
Copyright 2004 Wiley-Liss, Inc.
Department of Hematology, IRCCS Ospedale Maggiore of Milan, Milan, Italy.
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MeSH Terms
Antilymphocyte Serum / therapeutic use
Cyclosporine / therapeutic use
DNA Mutational Analysis
Drug Monitoring*
Erythropoietin, Recombinant / administration & dosage
Follow-Up Studies
Hemoglobins / analysis
Hemoglobinuria, Paroxysmal / drug therapy,  genetics*,  pathology*
Immunosuppression / methods
Membrane Proteins / genetics*
Middle Aged
Polymerase Chain Reaction
Thrombosis / etiology,  therapy
Treatment Outcome
Reg. No./Substance:
0/Antilymphocyte Serum; 0/Erythropoietin, Recombinant; 0/Hemoglobins; 0/Membrane Proteins; 0/phosphatidylinositol glycan-class A protein; 59865-13-3/Cyclosporine

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