Publications

Fanconi Anemia (FA) is an autosomal recessive chromosomal instability disorder. It is characterized by defective hematopoiesis and congenital anomalies. The most common features of FA are short stature, hyperpigmentation, low platelet count, low birth weight and abnormal thumbs and radii. This study describes the chromosomal breakage analysis in patients diagnosed with Fanconi Anemia, which is a rare disorder which occurs when the bone marrow fails to produce healthy new blood cells. About 10 case study is discussed in both chromosomal and genetic level. 72 hours standardized peripheral blood cultures with induced Mitomycin C in both control and samples were set-up, following harvesting, slide preparation and chromosomal breakage analysis was carried out. At the end of the study, it was seen that chromosomal breakage studies and mutational analysis can help diagnose the disease which when done early can be used effectively to treat the patients. As the symptoms can be heterogenous for this genetic disease it can be difficult to diagnose, but when diagnosed Chromosome Breakage Studies (CBS) will be one of the confirmatory tests. The whole exome sequence for a panel of genes was outsourced to study the genes such as FANCA, FANCC and FANCG are the major 3 genes responsible for FA. The result of this preliminary study is discussed.