Abstract
INTRODUCTION: Fanconi anemia (FA) is the most prevalent inherited disorder leading to bone marrow failure, resulting from a rare autosomal recessive genetic condition that affects all three types of blood cells. A key characteristic of FA is the body's heightened sensitivity to DNA-damaging agents, particularly those that induce crosslinking, which serves as an important diagnostic marker. Children at higher risk-such as those with unexplained growth delays, congenital defects, or a family history of FA-can significantly benefit from genetic testing. METHODS: This study involved 140 pediatric patients aged 1 to 18 years who met specific inclusion criteria: unexplained short stature without identifiable endocrine or nutritional causes, congenital anomalies associated with FA (such as skeletal or craniofacial deformities), and a family history suggestive of FA or early-onset blood cancers. The screening and diagnostic approach included a Chromosomal Breakage Test and genetic analysis. RESULTS: The retrospective analysis revealed that 19 (13.57%) out of the 140 children had previously undiagnosed cases of Fanconi anemia. Among these cases, short stature was noted in 6.7% (5 of 75 patients with short stature), congenital anomalies in 13.3% (4 of 30 patients with congenital anomalies), and positive cases from family screening accounted for 28.6% (10 of 35 patients with positive family history). The findings from the chromosomal breakage test provided valuable insights into the rates of positive, mosaic, and negative outcomes. Notably, mutations in the FANCA gene were found to be the most common among confirmed cases. CONCLUSION: Early genetic screening for Fanconi anemia in high-risk pediatric populations has proven to be an effective strategy for ensuring prompt diagnosis and timely management. Incorporating this screening into routine clinical practices could significantly enhance patient outcomes, reduce healthcare costs, and alleviate the impact of this serious genetic condition.