Fanconi anemia screening

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

Overview

There are no recommendations on screening for Fanconi anemia.

Screening

There are no recommendations on screening for Fanconi anemia. Screening for Fanconi anemia is not routinely done during pregnancy. This is in contrast to other disorders such as sickle cell disease or thalassemia, in which robust screening programs are in place. One study in Korea suggested that a nationwide screening program be implemented via treatment of cells with mitomycin C or diepoxybutane, which are DNA damaging agents.^[1] However, this study included a very small number of patients and is not universally applicable to other populations. The costs and risks of screening likely outweigh the benefits.

References

↑ Kook H, Cho D, Cho SH, Hong WP, Kim CJ, Park JY; et al. (1998). “Fanconi anemia screening by diepoxybutane and mitomicin C tests in Korean children with bone marrow failure syndromes”. J Korean Med Sci. 13 (6): 623–8. doi:10.3346/jkms.1998.13.6.623. PMC 3054538. PMID 9886171.

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[pmid9886171-1] Kook H, Cho D, Cho SH, Hong WP, Kim CJ, Park JY; et al. (1998). “Fanconi anemia screening by diepoxybutane and mitomicin C tests in Korean children with bone marrow failure syndromes”. J Korean Med Sci. 13 (6): 623–8. doi:10.3346/jkms.1998.13.6.623. PMC 3054538. PMID 9886171.

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