Laboratory testing for cobalamin deficiency in megaloblastic anemia

American Journal of Hematology

Volumn 88, Issue 6, 2013, Pages 522-526

  Oberley, Matthew J ^a   Yang, David T ^a  

^a UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COBALAMIN; DNA; HAPTOCORRIN; HOLOTRANSCOBALAMIN; TRANSCOBALAMIN II; UNCLASSIFIED DRUG;

ARTICLE; ATAXIA; BACTERIAL GROWTH; BACTERIUM CULTURE; CHEMOLUMINESCENCE; COGNITIVE DEFECT; COMPETITIVE BINDING CHEMILUMINESCENCE ASSAY; CYANOCOBALAMIN DEFICIENCY; DIAGNOSTIC VALUE; DIPHYLLOBOTHRIASIS; DNA SYNTHESIS; ERYTHROID CELL; EUGLENA GRACILIS; HEMATOPOIETIC STEM CELL; HUMAN; ILEUM; INTESTINE ABSORPTION; ISOTOPE DILUTION ASSAY; ISOTOPE LABELING; LABORATORY TEST; LACTOBACILLUS LEICHMANNII; MASS FRAGMENTOGRAPHY; MEGAKARYOCYTE; MEGALOBLASTIC ANEMIA; PATHOGENESIS; PERNICIOUS ANEMIA; PRIORITY JOURNAL; SCHILLING TEST; SENSITIVITY AND SPECIFICITY; SPINAL CORD ATROPHY; VITAMIN BLOOD LEVEL; VITAMIN METABOLISM;

ANEMIA, MEGALOBLASTIC; HUMANS; VITAMIN B 12; VITAMIN B 12 DEFICIENCY;

EID: 84878186816     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.23421     Document Type: Article

References (37)

1. Kumar N. Neurologic presentations of nutritional deficiencies. Neurol Clin 2010;28:107-170.
2. Green R. Folate, cobalamin, and megaloblastic anemias. In: Kaushansky K, Lichtman MA, Beutler E, Kipps TJ, Seligsohn U, Prchal JT, editors. Williams Hematology. New York: McGraw-Hill Medical; 2010.
3. Hakami N, Neiman PE, Canellos GP, et al. Neonatal megaloblastic anemia due to inherited transcobalamin II deficiency in two siblings. N Engl J Med 1971;285:1163-1170.
4. Carmel R, Herbert V. Deficiency of vitamin B12-binding alpha globulin in two brothers. Blood 1969;33:1-12.
5. Carmel R. How I treat cobalamin (vitamin B12) deficiency. Blood 2008;112:2214-2221.
6. Hvas AM, Ellegaard J, Nexø E. Increased plasma methylmalonic acid level does not predict clinical manifestations of vitamin B12 deficiency. Arch Intern Med 2001;161:1534-1541.
7. Anderson BB. Investigations into the euglena method for the assay of the vitamin b12 in serum. J Clin Pathol 1964;17:14-26.
8. Cooper BA, Whitehead VM. Evidence that some patients with pernicious anemia are not recognized by radiodilution assay for cobalamin in serum. N Engl J Med 1978;299:816-818.
9. Carmel R. Biomarkers of cobalamin (vitamin B-12) status in the epidemiologic setting: A critical overview of context, applications, and performance characteristics of cobalamin, methylmalonic acid, and holotranscobalamin II. Am J Clin Nutr 2011;94:348S-358S.
10. Kolhouse JF, Kondo H, Allen NC, et al. Cobalamin analogues are present in human plasma and can mask cobalamin deficiency because current radioisotope dilution assays are not specific for true cobalamin. N Engl J Med 1978;299:785-792.
11. Carmel R, Brar S, Agrawal A, et al. Failure of assay to identify low cobalamin concentrations. Clin Chem 2000;46:2017-2018.
12. Vlasveld LT, van't Wout JW, Meeuwissen P, et al. High measured cobalamin (vitamin B12) concentration attributable to an analytical problem in testing serum from a patient with pernicious anemia. Clin Chem 2006;52:157-158; discussion 158-159.
13. Hamilton MS, Blackmore S, Lee A. Possible cause of false normal B-12 assays. Br Med J 2006;333:654-655.
14. Yang DT, Cook RJ. Spurious elevations of vitamin B12 with pernicious anemia. N Engl J Med 2012;366:1742-1743.
15. Carmel R, Agrawal YP. Failures of cobalamin assays in pernicious anemia. N Engl J Med 2012;367:385-386.
16. Boven LA, van Wijnen M. False normal vitamin B(12) levels caused by assay error. Blood 2011;118:492.
17. Graber JJ, Sherman FT, Kaufmann H, et al. Vitamin B12-responsive severe leukoencephalopathy and autonomic dysfunction in a patient with "normal" serum B12 levels. J Neurol Neurosurg Psychiatry 2010;81:1369-1371.
18. Solomon LR. Cobalamin-responsive disorders in the ambulatory care setting: Unreliability of cobalamin, methylmalonic acid, and homocysteine testing. Blood 2005;105:978-985.
19. Carmel R, Solomon LR. Is testing for clinical cobalamin deficiency truly unreliable? Blood 2005;106:1136-1138; author reply 1137-1138.
20. Carmel R. Subclinical cobalamin deficiency. Curr Opin Gastroenterol 2012;28:151-158.
21. Carmel R. Mild transcobalamin I (haptocorrin) deficiency and low serum cobalamin concentrations. Clin Chem 2003;49:1367-1374.
22. Ward PC. Modern approaches to the investigation of vitamin B12 deficiency. Clin Lab Med 2002;22:435-445.
23. Herbert V. Vitamin B-12: Plant sources, requirements, and assay. Am J Clin Nutr 1988;48:852-858.
24. Remacha AF, Cadafalch J. Cobalamin deficiency in patients infected with the human immunodeficiency virus. Semin Hematol 1999;36:75-87.
25. Gardyn J, Mittelman M, Zlotnik J, et al. Oral contraceptives can cause falsely low vitamin B(12) levels. Acta Haematol 2000;104:22-24.
26. Arendt JF, Nexo E. Cobalamin related parameters and disease patterns in patients with increased serum cobalamin levels. PLoS One 2012;7:e45979.
27. Savage DG, Lindenbaum J, Stabler SP, et al. Sensitivity of serum methylmalonic acid and total homocysteine determinations for diagnosing cobalamin and folate deficiencies. Am J Med 1994;96:239-246.
28. Levin J, Bötzel K, Giese A, et al. Elevated levels of methylmalonate and homocysteine in Parkinson's disease, progressive supranuclear palsy and amyotrophic lateral sclerosis. Dement Geriatr Cogn Disord 2010;29:553-559.
29. Carmel R. Holotranscobalamin: Not ready for prime time. Clin Chem 2012;58:643-645; author reply 645-646.
30. Nexo E, Hoffmann-Lücke E. Holotranscobalamin, a marker of vitamin B-12 status: Analytical aspects and clinical utility. Am J Clin Nutr 2011;94:359S-365S.
31. Brady J, Wilson L, McGregor L, et al. Active B12: A rapid, automated assay for holotranscobalamin on the Abbott AxSYM analyzer. Clin Chem 2008;54:567-573.
32. Miller JW, Garrod MG, Rockwood AL, et al. Measurement of total vitamin B12 and holotranscobalamin, singly and in combination, in screening for metabolic vitamin B12 deficiency. Clin Chem 2006;52:278-285.
33. Heil SG, de Jonge R, de Rotte MC, et al. Screening for metabolic vitamin B12 deficiency by holotranscobalamin in patients suspected of vitamin B12 deficiency: A multicentre study. Ann Clin Biochem 2012;49:184-189.
34. Obeid R, Herrmann W. Holotranscobalamin in laboratory diagnosis of cobalamin deficiency compared to total cobalamin and methylmalonic acid. Clin Chem Lab Med 2007;45:1746-1750.
35. Valente E, Scott JM, Ueland PM, et al. Diagnostic accuracy of holotranscobalamin, methylmalonic acid, serum cobalamin, and other indicators of tissue vitamin B12 status in the elderly. Clin Chem 2011;57:856-863.
36. Goringe A, Ellis R, McDowell I, et al. The limited value of methylmalonic acid, homocysteine and holotranscobalamin in the diagnosis of early B12 deficiency. Haematologica 2006;91:231-234.
37. Schrempf W, Eulitz M, Neumeister V, et al. Utility of measuring vitamin B12 and its active fraction, holotranscobalamin, in neurological vitamin B12 deficiency syndromes. J Neurol 2011;258:393-401.