Detection of paroxysmal nocturnal hemoglobinuria clones to exclude inherited bone marrow failure syndromes

Research output: Contribution to journalArticle

Abstract

Background: Inherited bone marrow failure syndromes (IBMFS) and acquired aplastic anemia (AA) are life-threatening marrow failure disorders. These entities can be difficult to distinguish because they present similarly. Correct diagnosis is imperative for proper therapy. Design and methods: This is a retrospective, single-center study of patients <40 yr of age, evaluated for bone marrow failure, and assayed for the presence of a PNH clone in the pediatric or adult hematology/oncology clinics from 2001 to present. Patients were also evaluated for IBMFS. Results: We present results from 156 patients with marrow failure, 20 of whom have IBMFS. None of the IBMSF patients had paroxysmal nocturnal hemoglobinuria (PNH) clones. Conclusions: Although further studies are needed, our results suggest that the detection of a PNH clone can be a useful diagnostic tool to exclude the diagnosis of IBMFS and focus the work-up and treatment on an acquired form of marrow failure.

Original languageEnglish (US)
Pages (from-to)467-470
Number of pages4
JournalEuropean Journal of Haematology
Volume92
Issue number6
DOIs
StatePublished - Jun 2014

Keywords

  • Aplastic anemia
  • Bone marrow failure
  • Inherited marrow failure
  • Pancytopenia
  • Paroxysmal nocturnal hemoglobinuria

ASJC Scopus subject areas

  • Hematology

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