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Blood. 2014 Jul 17;124(3):437-40. doi: 10.1182/blood-2014-01-545830. Epub 2014 Apr 15.

Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia.

Author information

1
Division of Hematology/Oncology, Stem Cell Program, and.
2
Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA;
3
Papé Family Pediatric Research Institute, Oregon Stem Cell Center, Oregon Health & Science University, Portland, OR;
4
Department of Pediatric Hematology, Oncology and Transplantation, Wroclaw Medical University, Wroclaw, Poland;
5
Women and Children's Hospital of Buffalo, Buffalo, NY;
6
Department of Pediatric Hematology/Oncology, Medical University of Silesia, Zabrze, Poland;
7
Department of Pediatric Hematology/Oncology, Medical University of Warsaw, Poland;
8
Pediatrics, Yale University School of Medicine, New Haven, CT;
9
Department of Pathology, Boston Children's Hospital, Boston, MA;
10
Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA; Broad Institute, Cambridge, MA; and.
11
Division of Hematology/Oncology, Stem Cell Program, and Harvard Medical School, Boston, MA; Harvard Stem Cell Institute, Cambridge, MA.

Abstract

Pearson marrow pancreas syndrome (PS) is a multisystem disorder caused by mitochondrial DNA (mtDNA) deletions. Diamond-Blackfan anemia (DBA) is a congenital hypoproliferative anemia in which mutations in ribosomal protein genes and GATA1 have been implicated. Both syndromes share several features including early onset of severe anemia, variable nonhematologic manifestations, sporadic genetic occurrence, and occasional spontaneous hematologic improvement. Because of the overlapping features and relative rarity of PS, we hypothesized that some patients in whom the leading clinical diagnosis is DBA actually have PS. Here, we evaluated patient DNA samples submitted for DBA genetic studies and found that 8 (4.6%) of 173 genetically uncharacterized patients contained large mtDNA deletions. Only 2 (25%) of the patients had been diagnosed with PS on clinical grounds subsequent to sample submission. We conclude that PS can be overlooked, and that mtDNA deletion testing should be performed in the diagnostic evaluation of patients with congenital anemia.

PMID:
24735966
PMCID:
PMC4102714
DOI:
10.1182/blood-2014-01-545830
[Indexed for MEDLINE]
Free PMC Article
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