Abstract
The study was designed to confirm the diagnosis of Fanconi Anemia patients by MMC induced chromosomal breakage
studies along with the related clinical characteristics at cytogenetic laboratory AFIP, Rwp. Out of 192 patients included
in the study, 24 had confirmed diagnosis of Fanconi Anemia (FA); amongst which 14 (58.33%) were male and 10
(41.66 %) were female. The mean age calculated for this disease in our study is 11.18 years. Major characteristics
noted in the present study were the anomalies related to weight, height, and skeleton. Leukemia or Myelodysplastic
syndrome was also present in some of the cases. Moreover, they had other clinical history of bruises, infections,
bleeding gum and fever. Around 30-50% of the metaphases showed breakages in the chromosomes after being
subjected to clastogenic stress by mitomycin-C. MMC induced chromosome instability proved to be the gold standard
test for the timely diagnosis of FA as clinical features cannot confirm the diagnosis alone. Also, wide-scale national
community-based survey with FA registry could help in estimating the size of the problem in our country more
accurately and can also help in providing genetic counseling to the patients and their families. as previously no such
work has been done or available in the literature.
