Pearson syndrome in a Diamond-Blackfan anemia cohort

Blanche P. Alter

doi:10.1182/blood-2014-04-571687

Pearson syndrome in a Diamond-Blackfan anemia cohort

Blanche P. Alter

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

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 language	English (US)
Pages (from-to)	312-313
Number of pages	2
Journal	Blood
Volume	124
Issue number	3
DOIs	https://doi.org/10.1182/blood-2014-04-571687
State	Published - Jul 17 2014
Externally published	Yes

ASJC Scopus subject areas

Hematology
Biochemistry
Cell Biology
Immunology

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AB - 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.

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Pearson syndrome in a Diamond-Blackfan anemia cohort

Abstract

ASJC Scopus subject areas

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