Macrocytic anemia diagnostic study of choice

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Omer Kamal, M.D.[2]

Overview

Homocysteine and methylmalonic acid levels can be helpful in confirmation. Both serum homocysteine and methylmalonic acid (MMA) levels are increased in helpful confirmatory tests for cobalamin and folate deficiencies. Homocysteine but not methylmalonic acid is increased in folate deficiency.

Diagnostic study of choice

Homocysteine and methylmalonic acid levels can be helpful in confirmation. Both serum homocysteine and methylmalonic acid (MMA) levels are increased in helpful confirmatory tests for cobalamin and folate deficiencies. Homocysteine but not methylmalonic acid is increased in folate deficiency. [1][2][3] Methylmalonic acid is increased in vitamin B12 deficiency.

References

  1. Kaferle J, Strzoda CE (February 2009). "Evaluation of macrocytosis". Am Fam Physician. 79 (3): 203–8. PMID 19202968.
  2. Oberley MJ, Yang DT (June 2013). "Laboratory testing for cobalamin deficiency in megaloblastic anemia". Am. J. Hematol. 88 (6): 522–6. doi:10.1002/ajh.23421. PMID 23423840.
  3. Stabler SP (January 2013). "Clinical practice. Vitamin B12 deficiency". N. Engl. J. Med. 368 (2): 149–60. doi:10.1056/NEJMcp1113996. PMID 23301732.

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