期刊
BLOOD
卷 124, 期 3, 页码 437-440出版社
AMER SOC HEMATOLOGY
DOI: 10.1182/blood-2014-01-545830
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资金
- Manton Center for Orphan Disease Research
- Diamond Blackfan Anemia Foundation
- National Institutes of Health National Heart, Lung, and Blood Institute [R01 HL107558, K02 HL111156]
- Harvard Stem Cell Institute
- Charles H. Hood Foundation, Inc., Boston, MA
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.
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