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Comment
. 2014 Jul 17;124(3):312-3.
doi: 10.1182/blood-2014-04-571687.

Pearson syndrome in a Diamond-Blackfan anemia cohort

Blanche P Alter  1
Affiliations
Comment

Pearson syndrome in a Diamond-Blackfan anemia cohort

Blanche P Alter. Blood. .

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.

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Conflict of interest statement

Conflict-of-interest disclosure: The author declares no competing financial interests.

Figures

None
Bone marrow from a patient with PS. Left: vacuoles in myeloid precursors; right: a ringed sideroblast. See Figure 1E in the article by Gagne et al that begins on page 437.
See this image and copyright information in PMC

Comment on

  • Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia.
    Gagne KE, Ghazvinian R, Yuan D, Zon RL, Storm K, Mazur-Popinska M, Andolina L, Bubala H, Golebiowska S, Higman MA, Kalwak K, Kurre P, Matysiak M, Niewiadomska E, Pels S, Petruzzi MJ, Pobudejska-Pieniazek A, Szczepanski T, Fleming MD, Gazda HT, Agarwal S. Gagne KE, et al. Blood. 2014 Jul 17;124(3):437-40. doi: 10.1182/blood-2014-01-545830. Epub 2014 Apr 15. Blood. 2014. PMID: 24735966 Free PMC article.

References

    1. Gagne KE, Ghazvinian R, Yuan D, et al. Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia. Blood. 2014;124(3):437–440. - PMC - PubMed
    1. Shimamura A. Inherited bone marrow failure syndromes: molecular features. Hematology Am Soc Hematol Educ Program. 2006;63-71. - PubMed
    1. Fargo JH, Kratz CP, Giri N, et al. Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia. Br J Haematol. 2013;160(4):547–554. - PMC - PubMed
    1. Superti-Furga A, Schoenle E, Tuchschmid P, et al. Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA. Eur J Pediatr. 1993;152(1):44–50. - PubMed
    1. Vlachos A, Rosenberg PS, Atsidaftos E, Alter BP, Lipton JM. Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry. Blood. 2012;119(16):3815–3819. - PMC - PubMed

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