Differentiation of Fanconi anemia from idiopathic aplastic anemia by induced chromosomal breakage study using mitomycin-C (MMC).
Indian Pediatr
;
2004 May; 41(5): 473-7
Article
in English
| IMSEAR
| ID: sea-11563
ABSTRACT
This study was conducted to differentiate between Fanconi anemia (FA) and "idiopathic" aplastic anemia on the basis of induced chromosomal breakage study with mitomycin C (MMC). MMC-stress test was conducted on peripheral blood lymphocytes from 29 patients with aplastic anemia. Ten patients with very high percentage of chromosomal breakage and four patients exhibiting somatic mosaicism were diagnosed as FA on the basis of chromosomal breakage study. Six of these patients exhibited congenital anomalies at presentation while another eight lacked such anomalies or had minor physical problems.The present study illustrates that MMC stress test provides an unequivocal means of differentiation between Fanconi anemia and 'idiopathic' aplastic anemia. Further, the study, first of its kind from India, stresses on the need for conducting this test in all aplastic anemia cases, even those without congenital anomalies, for accurate and timely diagnosis of Fanconi anemia to implement appropriate therapy.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Female
/
Humans
/
Male
/
Child
/
Child, Preschool
/
Adolescent
/
Mitomycin
/
Nucleic Acid Synthesis Inhibitors
/
Adult
/
Chromosome Breakage
Type of study:
Diagnostic study
Language:
English
Journal:
Indian Pediatr
Year:
2004
Type:
Article
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