Pearson syndrome in a Diamond-Blackfan anemia cohort

Blanche P. Alter

Research output: Contribution to journalArticle

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. 1.

Original languageEnglish (US)
Pages (from-to)312-313
Number of pages2
JournalBlood
Volume124
Issue number3
DOIs
StatePublished - Jul 17 2014
Externally publishedYes

ASJC Scopus subject areas

  • Hematology
  • Biochemistry
  • Cell Biology
  • Immunology

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