Cytogenetic analysis of fanconi anemia patients: An hospital based study

Abstract

: Fanconi anemia is a rare genetic disorder caused by mutations in genes whose protein products are involved in replication, cell cycle control and DNA repair and is associated with a very high frequency of bone marrow failure and many other manifestations including, but not restricted to, severe birth defects.The diagnosis of FA is confirmed by a specific test known as chromosomal breakage study, a differential technique in which clastogenic substances, such as DEB (diepoxy butane) or MMC (mitomycin C), lead to sections of the chromosome being deleted, added, or rearranged.In this retrospective study, peripheral blood smears of patients with Aplastic Anemia were analyzed to diagnose Fanconi Anemia.: A total of 135 cases of Aplastic anemia were analyzed and screened by chromosomal breakage analysis for ruling in/out Fanconi anemia.: A total of 9 (6.66%) out of 135 patients showed a significant increase in the number of chromosomal breaks in comparison to their control. An analysis of the variable clinical manifestations was also done and correlated to the diagnosis of Fanconi Anemia. : This study throws light on the importance of cytogenetic analysis as being the most classical test for FA which involves detection of chromosomal breakage or aberrations in metaphase spreads. This relatively inexpensive assay may be useful for screening patients for whom FA is in the differential diagnosis, such as those with radial ray anomalies, short stature, hypogonadism, or café au lait spots, or for population-based FA incidence studies.