Pearson syndrome in a Diamond-Blackfan anemia cohort

Blanche P. Alter

Research output: Contribution to journalArticle

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. 1.

Original languageEnglish (US)
Pages (from-to)312-313
Number of pages2
JournalBlood
Volume124
Issue number3
DOIs
StatePublished - Jul 17 2014
Externally publishedYes

Fingerprint

Diamond-Blackfan Anemia
Diamond
Genes
Ribosomal Proteins
Mitochondrial DNA
Blood
Mitochondrial Genes
Sequence Deletion
Gene Deletion

ASJC Scopus subject areas

  • Hematology
  • Biochemistry
  • Cell Biology
  • Immunology

Cite this

Pearson syndrome in a Diamond-Blackfan anemia cohort. / Alter, Blanche P.

In: Blood, Vol. 124, No. 3, 17.07.2014, p. 312-313.

Research output: Contribution to journalArticle

Alter, Blanche P. / Pearson syndrome in a Diamond-Blackfan anemia cohort. In: Blood. 2014 ; Vol. 124, No. 3. pp. 312-313.
@article{bb9deb0309154f24b8454eaa4fb42f34,
title = "Pearson syndrome in a Diamond-Blackfan anemia cohort",
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. 1.",
author = "Alter, {Blanche P.}",
year = "2014",
month = "7",
day = "17",
doi = "10.1182/blood-2014-04-571687",
language = "English (US)",
volume = "124",
pages = "312--313",
journal = "Blood",
issn = "0006-4971",
publisher = "American Society of Hematology",
number = "3",

}

TY - JOUR

T1 - Pearson syndrome in a Diamond-Blackfan anemia cohort

AU - Alter, Blanche P.

PY - 2014/7/17

Y1 - 2014/7/17

N2 - 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. 1.

AB - 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. 1.

UR - http://www.scopus.com/inward/record.url?scp=84904479775&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84904479775&partnerID=8YFLogxK

U2 - 10.1182/blood-2014-04-571687

DO - 10.1182/blood-2014-04-571687

M3 - Article

C2 - 25035146

AN - SCOPUS:84904479775

VL - 124

SP - 312

EP - 313

JO - Blood

JF - Blood

SN - 0006-4971

IS - 3

ER -