The Italian Registry of Fanconi's Anaemia (RIAF) was established in 1994 at the Cytogenetics Department of the Elena d'Aosta Hospital in Naples. Its aim is to collect data regarding Italian Fanconi's anaemia (FA) patients and their relatives. Since FA is a rare disease, the Registry is expected to benefit patients, improving the knowledge of this illness from the diagnostic, clinical, therapeutical and epidemiological viewpoint, and also supporting the laboratory and clinical research on FA aetiology, pathophysiology and therapy. Moreover, the Cytogenetics Department provides diagnosis through cytogenetic tests and collects blood samples of diagnosed patients, their parents and siblings for genetic tests and research. The RIAF is participating, through its coordinator and the physicians collaborating all over Italy, to some Italian and European research projects.