The Need for More Accurate and Timely Diagnosis in Fanconi Anemia: A Report From the International Fanconi Anemia Registry

Abstract

Testing for sensitivity to diepoxybutane to rule out a diagnosis of FA needs to be applied more widely in patients with congenital malformations. All siblings of affected probands also should have testing, because a lack of concordance of phenotype in affected siblings makes clinical diagnosis unreliable even within sibships. A more timely diagnosis of FA in the preanemic phase is needed to implement appropriate therapy and to enable parents to make informed reproductive decisions.