Advertisement

Annals of Hematology

, Volume 87, Issue 7, pp 599–600 | Cite as

Role of (Glu → Arg, Q5R) mutation of the intrinsic factor in pernicious anemia and other causes of low vitamin B12

  • A. F. Remacha
  • E. Del Río
  • M. P. Sardà
  • C. Canals
  • M. Simó
  • M. Baiget
Letter to the Editor

Dear Editor,

Pernicious anemia is a vitamin B12 deficiency caused by a lack of gastric intrinsic factor due to an autoimmune chronic atrophic gastritis. Pernicious anemia is typically an adult disease unlike congenital intrinsic factor deficiency, which is also known as juvenile or congenital pernicious anemia (online Mendelian inheritance in man (OMIM) accession no. 261000) [1].

The intrinsic factor gene was identified and characterized more than a decade ago [2, 3]. As a consequence, a number of abnormalities in the intrinsic factor gene were found in patients with congenital intrinsic factor deficiency [4, 5, 6]. Moreover, a prevalent polymorphism in the intrinsic factor gene was observed, in which glutamic acid was replaced by an arginin in position 5 (Glu → Arg, Q5R) [4, 6]. Apparently, this mutation does not affect intrinsic factor secretion in vitro [4]. However, a possible role of this mutation in ileal vitamin B12 absorption has not been evaluated. Some patients with...

Keywords

Intrinsic Factor Atrophic Gastritis Pernicious Anemia Population Frequency Chronic Atrophic Gastritis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. 1.
    Rosenblatt DS, Whitehead VM (1999) Cobalamin and folate deficiency: acquired and hereditary disorders in children. Semin Hematol 36:19–34PubMedGoogle Scholar
  2. 2.
    Platica O, Janeczko R, Quadros EV, Regec A, Romain R, Rothenberg SP (1991) The cDNA sequence and the deduced amino acid sequence of human transcobalamin II show homology with rat intrinsic factor and human transcobalamin I. J Biol Chem 266:7860–7863PubMedGoogle Scholar
  3. 3.
    Hewitt JE, Gordon MM, Taggart RT, Mohandas TK, Alpers DH (1991) Human gastric intrinsic factor: characterization of cDNA and genomic clones and localization to human chromosome 11. Genomics 10:432–440PubMedCrossRefGoogle Scholar
  4. 4.
    Gordon MM, Brada N, Remacha A, Badell I, del Rio E, Baiget M, Santer R, Quadros EV, Rothenberg SP, Alpers DH (2004) A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency. Hum Mutat 23:85–91PubMedCrossRefGoogle Scholar
  5. 5.
    Yassin F, Rothenberg SP, Rao S, Gordon MM, Alpers DH, Quadros EV (2004) Identification of a 4-base deletion in the gene in inherited intrinsic factor deficiency. Blood 103:1515–1517PubMedCrossRefGoogle Scholar
  6. 6.
    Tanner SN, Li Z, Perko JD, Oner C, Cetin M, Altay C, Yurtsever Z, David KL, Faivre L, Ismail EA, Grasbeck R, de la Chapelle A (2004) Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. Proc Natl Acad Sci U S A 102:4130–4233CrossRefGoogle Scholar
  7. 7.
    Miller JW, Ramos MI, Garrod MG, Flynn MA, Green R (2002) Transcobalamin II 775G-to-C polymorphism and indices of vitamin B12 status in healthy older adults. Blood 100:718–720PubMedCrossRefGoogle Scholar
  8. 8.
    Remacha AF, Sambeat MA, Barcelo MJ, Mones J, Garcia-Die J, Gimferrer E (1992) Congenital intrinsic factor deficiency in a Spanish patient. Ann Hematol 64:202–204PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • A. F. Remacha
    • 1
  • E. Del Río
    • 2
  • M. P. Sardà
    • 1
  • C. Canals
    • 1
  • M. Simó
    • 3
  • M. Baiget
    • 2
  1. 1.Department of HematologyHospital de Sant PauBarcelonaSpain
  2. 2.Department of GeneticsHospital de Sant PauBarcelonaSpain
  3. 3.Department of GynecologyHospital de Sant PauBarcelonaSpain

Personalised recommendations