Cytogenetic investigation in Iranian patients suspected with Fanconi anemia

We present our study on 318 patients suspected with Fanconi anemia (FA) referred to The Iranian Blood Transfusion Organization during the period of 4 years. Mitomycin C (MMC) was used as a DNA cross-linker to study chromosomal breakage. In total 61 positive cases were diagnosed cytogenetically. The ratio of women being affected was slightly higher than men. Comparison of several hematologic and clinical parameters in FA (MMC positive) and non-FA (MMC negative) patients showed no clinically significant differences. This study also indicates that this sort of test is very useful and essential for accurate diagnosis of patients with FA with or without congenital anomalies.