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Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib.

Publication ,  Journal Article
Wang, DQ; Carreras, CT; Fiske, LM; Austin, S; Boree, D; Kishnani, PS; Weinstein, DA
Published in: Genet Med
September 2012

PURPOSE: The aim of this study was to characterize the frequency and causes of anemia in glycogen storage disease type I. METHODS: Hematologic data and iron studies were available from 202 subjects (163 with glycogen storage disease Ia and 39 with glycogen storage disease Ib). Anemia was defined as hemoglobin concentrations less than the 5th percentile for age and gender; severe anemia was defined as presence of a hemoglobin <10 g/dl. RESULTS: In glycogen storage disease Ia, 68/163 patients were anemic at their last follow-up. Preadolescent patients tended to have milder anemia secondary to iron deficiency, but anemia of chronic disease predominated in adults. Severe anemia was present in 8/163 patients, of whom 75% had hepatic adenomas. The anemia improved or resolved in all 10 subjects who underwent resection of liver lesions. Anemia was present in 72% of patients with glycogen storage disease Ib, and severe anemia occurred in 16/39 patients. Anemia in patients with glycogen storage disease Ib was associated with exacerbations of glycogen storage disease enterocolitis, and there was a significant correlation between C-reactive protein and hemoglobin levels (P = 0.036). CONCLUSION: Anemia is a common manifestation of both glycogen storage disease Ia and Ib, although the pathophysiology appears to be different between these conditions. Those with severe anemia and glycogen storage disease Ia likely have hepatic adenomas, whereas glycogen storage disease enterocolitis should be considered in those with glycogen storage disease Ib.

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Published In

Genet Med

DOI

EISSN

1530-0366

Publication Date

September 2012

Volume

14

Issue

9

Start / End Page

795 / 799

Location

United States

Related Subject Headings

  • Severity of Illness Index
  • Middle Aged
  • Male
  • Liver Neoplasms
  • Iron Deficiencies
  • Iron
  • Infant
  • Humans
  • Hemoglobins
  • Glycogen Storage Disease Type I
 

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Wang, D. Q., Carreras, C. T., Fiske, L. M., Austin, S., Boree, D., Kishnani, P. S., & Weinstein, D. A. (2012). Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib. Genet Med, 14(9), 795–799. https://doi.org/10.1038/gim.2012.41
Wang, David Q., Caroline T. Carreras, Laurie M. Fiske, Stephanie Austin, Danielle Boree, Priya S. Kishnani, and David A. Weinstein. “Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib.Genet Med 14, no. 9 (September 2012): 795–99. https://doi.org/10.1038/gim.2012.41.
Wang DQ, Carreras CT, Fiske LM, Austin S, Boree D, Kishnani PS, et al. Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib. Genet Med. 2012 Sep;14(9):795–9.
Wang, David Q., et al. “Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib.Genet Med, vol. 14, no. 9, Sept. 2012, pp. 795–99. Pubmed, doi:10.1038/gim.2012.41.
Wang DQ, Carreras CT, Fiske LM, Austin S, Boree D, Kishnani PS, Weinstein DA. Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib. Genet Med. 2012 Sep;14(9):795–799.

Published In

Genet Med

DOI

EISSN

1530-0366

Publication Date

September 2012

Volume

14

Issue

9

Start / End Page

795 / 799

Location

United States

Related Subject Headings

  • Severity of Illness Index
  • Middle Aged
  • Male
  • Liver Neoplasms
  • Iron Deficiencies
  • Iron
  • Infant
  • Humans
  • Hemoglobins
  • Glycogen Storage Disease Type I