Detection of paroxysmal nocturnal hemoglobinuria clones to exclude inherited bone marrow failure syndromes | Aplastic Anemia and MDS International Foundation

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

Journal Title: 
Eur J Haematol
Author(s): 
Dezern AE, Symons HJ, Resar LS, Borowitz MJ, Armanios MY, Brodsky RA
Primary Author: 
Dezern AE
Original Publication Date: 
Tuesday, February 25, 2014

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.