Clinical and molecular aspects of 23 patients affected by paroxysmal nocturnal hemoglobinuria

Carla Boschetti, Elisa Fermo, Paola Bianchi, Cristina Vercellati, Fiorenza Barraco, Alberto Zanella

Research output: Contribution to journalArticlepeer-review


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 sc 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.

Original languageEnglish
Pages (from-to)36-44
Number of pages9
JournalAmerican Journal of Hematology
Issue number1
Publication statusPublished - Sep 2004


  • Aplastic anemia
  • Immunosuppression
  • Paroxysmal nocturnal hemoglobinuria
  • PIG-A gene
  • rHu-EPO therapy

ASJC Scopus subject areas

  • Hematology

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