Fanconi anemia other diagnostic studies

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


Other diagnostic studies in Fanconi anemia include fetal hemoglobin assessment, adenosine deaminase study, and erythropoietin assay.

Other diagnostic studies

Fetal hemoglobin study

Fetal hemoglobin (HbF) may be increased for age as a manifestation of stress erythropoiesis.[1]

Adenosine deaminase study

Red cell adenosine deaminase (ADA) is increased in approximately 85% of patients with Diamond-Blackfan anemia (DBA) but appears to be normal in Fanconi anemia.[2]

Serum erythropoietin study

Serum erythropoietin (Ep) levels are markedly increased and higher than expected for the degree of anemia, similar to that observed in DBA. However, levels may be low in patients with impaired renal function.[3]


  1. Sousa R, Gonçalves C, Guerra IC, Costa E, Fernandes A, do Bom Sucesso M; et al. (2016). "Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis". Orphanet J Rare Dis. 11 (1): 102. doi:10.1186/s13023-016-0485-0. PMC 4960735. PMID 27456001.
  2. Fargo JH, Kratz CP, Giri N, Savage SA, Wong C, Backer K; et al. (2013). "Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia". Br J Haematol. 160 (4): 547–54. doi:10.1111/bjh.12167. PMC 3609920. PMID 23252420.
  3. Jacquemont C, Taniguchi T (2007). "The Fanconi anemia pathway and ubiquitin". BMC Biochem. 8 Suppl 1: S10. doi:10.1186/1471-2091-8-S1-S10. PMC 2106361. PMID 18047734.