J Korean Med Sci.  1998 Dec;13(6):623-628. 10.3346/jkms.1998.13.6.623.

Fanconi anemia screening by diepoxybutane and mitomicin C tests in Korean children with bone marrow failure syndromes

• Kook H
• Cho D
• Cho SH
• Hong WP
• Kim CJ
• Park JY
• Yoon WS
• Ryang DW
• Hwang TJ

• KMID: 1038443
• DOI: http://doi.org/10.3346/jkms.1998.13.6.623

Abstract

Fanconi anemia (FA) is an autosomal recessive disorder of progressive bone marrow failure in patients with congenital malformations. FA is different from acquired aplastic anemia (AA) in terms of the natural course and treatment options. As the frequency of FA is unknown in Korea, we conducted screening tests using DNA clastogenic agents, diepoxybutane (DEB) and mitomicin C (MMC) in southwestern Korea. Forty-three children with AA or other bone marrow failure syndromes and siblings of known FA were evaluated. Six patients with AA (6/24=25.0%) and a 2-month-old patient with myelodysplastic syndrome were found to have increased chromosomal breakage to both DEB and MMC, confirming the diagnosis of FA. No overlap in chromosomal breakage to both agents was found between the FA group and non-FA group. The frequency of FA in this study, much higher than those of previous studies in Korea which did not incorporate the above tests, was similar to that of other countries. DEB and MMC tests were readily feasible and useful in screening FA in patients with AA as well as other bone marrow failure syndromes. A nation-wide screening and registry for FA should be initiated since FA requires different therapeutic and management options from idiopathic AA.

MeSH Terms

Adolescence
Bone Marrow Diseases/genetics
Bone Marrow Diseases/epidemiology
Bone Marrow Diseases/complications*
Child
Child, Preschool
Epoxy Compounds/diagnostic use*
Fanconi's Anemia/genetics
Fanconi's Anemia/epidemiology
Fanconi's Anemia/diagnosis*
Female
Human
Infant
Infant, Newborn
Korea/epidemiology
Male
Mitomycin/diagnostic use*
Mutagens/diagnostic use*