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KMID : 0191119980130060623
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Journal of Korean Medical Science
1998 Volume.13 No. 6 p.623 ~ p.628
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Fanconi anemia screening by diepoxybutane and mitomicin C tests in Korean children with bone marrow failure syndromes
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Kook H
Cho D/Cho SH/Hong WP/Kim CJ/Park JY/Yoon WS/Ryang DW/Hwang TJ
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Abstract
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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.
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KEYWORD
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