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

Katelyn E. Gagne, Roxanne Ghazvinian, Daniel Yuan, Rebecca L. Zon, Kelsie Storm, Magdalena Mazur-Popinska, Laura Andolina, Halina Bubala, Sydonia Golebiowska, Meghan A. Higman, Krzysztof Kalwak, Peter Kurre, Michal Matysiak, Edyta Niewiadomska, Salley Pels, Mary Jane Petruzzi, Aneta Pobudejska-Pieniazek, Tomasz Szczepanski, Mark D. Fleming, Hanna T. GazdaSuneet Agarwal

Research output: Contribution to journalArticle

16 Scopus citations

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 nonhematologicmanifestations, 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 diagnosedwithPSon clinical grounds subsequent to samplesubmission. We conclude that PS can be overlooked, and that mtDNA deletion testing should be performed in the diagnostic evaluation of patients with congenital anemia.

Original languageEnglish (US)
Pages (from-to)437-440
Number of pages4
JournalBlood
Volume124
Issue number3
DOIs
StatePublished - Jul 17 2014

ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology

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    Gagne, K. E., Ghazvinian, R., Yuan, D., Zon, R. L., Storm, K., Mazur-Popinska, M., Andolina, L., Bubala, H., Golebiowska, S., Higman, M. A., Kalwak, K., Kurre, P., Matysiak, M., Niewiadomska, E., Pels, S., Petruzzi, M. J., Pobudejska-Pieniazek, A., Szczepanski, T., Fleming, M. D., ... Agarwal, S. (2014). Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia. Blood, 124(3), 437-440. https://doi.org/10.1182/blood-2014-01-545830