Linked Life Data

9886171

Source:http://linkedlifedata.com/resource/pubmed/id/9886171

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1999-3-16
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1011-8934
pubmed:author
pubmed:issnType
Print
pubmed:volume
13
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
623-8
pubmed:dateRevised
2011-3-16
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Fanconi anemia screening by diepoxybutane and mitomicin C tests in Korean children with bone marrow failure syndromes.
pubmed:affiliation
Department of Pediatrics, Chonnam National University Medical School, Research Institute of Medical Sciences, Kwangju, Korea. hoonkook@chonnam.chonnam.ac.kr
pubmed:publicationType
Journal Article, Clinical Trial, Research Support, Non-U.S. Gov't