Pearson syndrome in a Diamond-Blackfan anemia cohort.

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.

• Authors: Blanche P Alter
• Journal: Blood (Blood) Vol. 124 Issue 3 Pg. 312-3 (Jul 17 2014) ISSN: 1528-0020 [Electronic] United States
• PMID: 25035146 (Publication Type: Journal Article, Comment)

Chemical References

• DNA, Mitochondrial
• Acyl-CoA Dehydrogenase, Long-Chain

Topics

• Acyl-CoA Dehydrogenase, Long-Chain (deficiency, genetics)
• Anemia, Diamond-Blackfan (diagnosis, genetics)
• Congenital Bone Marrow Failure Syndromes
• DNA, Mitochondrial (genetics)
• Humans
• Lipid Metabolism, Inborn Errors (diagnosis, genetics)
• Mitochondrial Diseases (diagnosis, genetics)
• Muscular Diseases (diagnosis, genetics)