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]
Overview
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.
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.
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.