Fetal hemoglobin in bone marrow failure syndromes: comparative utility vs PNH clones and telomere length

Résumé fourni par la source

Bone marrow failure syndromes (BMFS) are rare disorders characterized by impaired hematopoiesis, and distinguishing inherited bone marrow failure syndromes (IBMFS) from acquired aplastic anemia (AA) is essential for management. We retrospectively analyzed clinical, pathological, and genetic data from 159 BMFS patients after central review, assessing the diagnostic and prognostic utility of fetal hemoglobin (HbF) relative to minor paroxysmal nocturnal hemoglobinuria (PNH) clones and telomere length. Elevated HbF (>1%) was frequently observed in both IBMFS and AA but lacked diagnostic specificity ( P =0.2). In contrast, rapid onset cytopenias (<3 months before diagnosis, P <0.0001), minor PNH clones (>0.1% in at least two cell types, P <0.0001), and age-adjusted lymphocyte telomere length at or above the 1 st centile were characteristic of AA, with the latter two variables holding independent statistical significance in a multivariable analysis to differentiate among BMFS subtypes. The prognostic value of elevated HbF was also limited except at extremely elevated levels (HbF>10%) where it was associated with adverse transplant-censored overall survival (median 6 years versus not reached, P <0.001). In summary, HbF is elevated in both inherited and acquired BMFS and, unlike minor PNH clones and telomere length, lacks diagnostic specificity; its prognostic value is limited except at extremely elevated levels (>10%).

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