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.
MeSH terms
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Acyl-CoA Dehydrogenase, Long-Chain / deficiency*
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Acyl-CoA Dehydrogenase, Long-Chain / genetics
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Anemia, Diamond-Blackfan / diagnosis*
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Anemia, Diamond-Blackfan / genetics*
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Congenital Bone Marrow Failure Syndromes
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DNA, Mitochondrial / genetics*
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Humans
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Lipid Metabolism, Inborn Errors / diagnosis*
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Lipid Metabolism, Inborn Errors / genetics*
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Mitochondrial Diseases / diagnosis*
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Mitochondrial Diseases / genetics*
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Muscular Diseases / diagnosis*
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Muscular Diseases / genetics*
Substances
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DNA, Mitochondrial
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Acyl-CoA Dehydrogenase, Long-Chain