| Clinical and molecular aspects of 23 patients affected by paroxysmal nocturnal hemoglobinuria. | |
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MedLine Citation:
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PMID: 15307104 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Carla Boschetti; Elisa Fermo; Paola Bianchi; Cristina Vercellati; Fiorenza Barraco; Alberto Zanella |
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Publication Detail:
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Type: Clinical Trial; Journal Article |
Journal Detail:
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Title: American journal of hematology Volume: 77 ISSN: 0361-8609 ISO Abbreviation: Am. J. Hematol. Publication Date: 2004 Sep |
Date Detail:
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Created Date: 2004-08-12 Completed Date: 2004-09-21 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7610369 Medline TA: Am J Hematol Country: United States |
Other Details:
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Languages: eng Pagination: 36-44 Citation Subset: IM |
Copyright Information:
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Copyright 2004 Wiley-Liss, Inc. |
Affiliation:
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Department of Hematology, IRCCS Ospedale Maggiore of Milan, Milan, Italy. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Antilymphocyte Serum / therapeutic use Cyclosporine / therapeutic use DNA Mutational Analysis Drug Monitoring* Erythropoietin, Recombinant / administration & dosage Female Follow-Up Studies Hemoglobins / analysis Hemoglobinuria, Paroxysmal / drug therapy, genetics*, pathology* Humans Immunosuppression / methods Male Membrane Proteins / genetics* Middle Aged Mutation* Polymerase Chain Reaction Thrombosis / etiology, therapy Treatment Outcome |
| Chemical | |
Reg. No./Substance:
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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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