Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Letter to the Editor
  • Published:

Pancytopenia from severe cobalamin (Vitamin B12) deficiency in Johanson–Blizzard syndrome

European Journal of Clinical Nutrition volume 67, page 1118 (2013)Cite this article

Subjects

Johanson–Blizzard syndrome is a rare autosomal recessive disorder characterized by nasal, auditory and dental abnormalities, and exocrine pancreatic insufficiency.1 These patients require oral pancreatic enzyme replacement and fat-soluble vitamin supplements.2

Cobalamin (vitamin B12) is essential for several important enzymatic processes in the body that lead to energy metabolism, DNA synthesis and blood cell production. Patients with cobalamin deficiency can develop hematological and neuropsychiatric abnormalities. Absorption of cobalamin is complex. Two distinct cobalamin-binding proteins haptocorrin (R binder) and intrinsic factor (IF) compete for free cobalamin released in the stomach. In the acidic environment, haptocorrin binds free cobalamin with much greater affinity than IF. Pancreatic enzymes degrade the haptocorrin–cobalamin complex in the small intestine, releasing free cobalamin to bind to IF for its eventual absorption in the terminal ileum.3 Cobalamin deficiency can occur rarely in patients with exocrine pancreatic insufficiency (for example, cystic fibrosis), although the precise mechanisms remain unclear.4 We report this complication occurring in Johanson–Blizzard syndrome.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

References

  1. Rezaei N, Sabbaghian M, Liu Z, Zenker M . Johanson-Blizzard syndrome. Eur J Pediatr 2011; 170: 179–183.

    Article  Google Scholar 

  2. Jones NL, Hofley PM, Durie PR . Pathophysiology of the pancreatic defect in Johanson-Blizzard syndrome: A disorder of acinar development. J Pediatr 1994; 125: 406–408.

    Article  CAS  Google Scholar 

  3. Langan RC, Zawistoski KJ . Update on vitamin B12 deficiency. Am Fam Physician 2011; 83: 1425–1430.

    PubMed  Google Scholar 

  4. Rucker RW, Harrison GM . Vitamin B12 deficiency in cystic fibrosis. NEJM 1973; 289: 329.

    CAS  PubMed  Google Scholar 

  5. Bernstein L, Herbert V . The role of pancreatic exocrine secretions in the absorption of vitamin B12 and iron. J Clin Nutr 1973; 26: 340–346.

    Article  CAS  Google Scholar 

  6. Herzlich B, Herbert V . The role of the pancreas in cobalamin (vitamin B12) absorption. Am J Gastroenterol 1984; 79: 489–493.

    CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of Gastroenterology and Nutrition, Department of Paediatrics, Faculty of Medicine, Dalhousie University, IWK Health Centre, Halifax, Nova Scotia, Canada

    S Aubrey & M Rashid

  2. Division of Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Dalhousie University, IWK Health Centre, Halifax, Nova Scotia, Canada

    B Crooks

Authors
  1. S Aubrey
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. B Crooks
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. M Rashid
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to M Rashid.

Ethics declarations

Competing interests

The authors declare no conflict of interest.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Aubrey, S., Crooks, B. & Rashid, M. Pancytopenia from severe cobalamin (Vitamin B12) deficiency in Johanson–Blizzard syndrome. Eur J Clin Nutr 67, 1118 (2013). https://doi.org/10.1038/ejcn.2013.140

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/ejcn.2013.140

Search

Advanced search

Quick links