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Title: Pearson syndrome in a Diamond-Blackfan anemia cohort.
Authors: Alter BP
Journal: Blood
Date: 2014 Jul 17
Branches: CGB
PubMed ID: 25035146
PMC ID: PMC4102705
Abstract: In this issue of Blood, Gagne et al describe a cohort of 362 patients clinically classified as having Diamond-Blackfan anemia (DBA), in which 175 (48%) were found to have mutations and deletions in ribosomal protein genes or GATA1, and 8 of the remaining patients (2.2% overall) had mitochondrial gene deletions consistent with Pearson marrow-pancreas syndrome (PS). The authors propose that all patients with presumptive DBA should be tested for mitochondrial DNA (mtDNA) deletion during their initial genetic evaluation.