Evaluation on the genetic instability detecting methods for rapid diagnose of Fanconi anemia used in the undeveloped areas of China.

INTRODUCTION: Fanconi anemia (FA), as one of the congenital bone marrow failure syndromes, is characterized by severe bone marrow hypocellularity and pancytopenia which is similar with acquired aplastic anemia (AAA). However, patients with FA or AAA need an accurate diagnose, as the two syndromes differ significantly in both treatment and prognosis. FA results from gene mutations of the FA pathway genes specifically required for DNA repair, and the mutation of these genes contributes to the genome instability of FA cells. Based on this feature, chromosome aberration (CA) has been used as a "golden standard" to the auxiliary diagnosis of FA from AAA. However, CA diagnose calls for more technical requirements and a long time for the subsequent statistical analysis.

METHODS: In our study, another two genome instability examination tools, cytokinesis-block micronucleus (CBMN) and single-cell gel electrophoresis (SCGE), were used to distinguish FA patients from AAA patients, compared with CA.

RESULTS: The results suggested that significant differences were observed in the FA patients compared with the AAA patients and the controls using all of the three genomic instability examination tools. However, CBMN is the most cost-effective method to distinguish FA patients from AAA patients among the three genome instability examination tools, when the time costs, instrument costs, and technical costs were compared.

CONCLUSION: In areas with economic and technical limitations, CBMN is an alternative assay to help distinguish FA patients from AAA patients.