A recurrent frameshift mutation of the ankyrin gene associated with severehereditary spherocytosis

During a survey of typical, dominant hereditary spherocytosis (HS) patients , we identified a frameshift mutation of the ankyrin gene in three unrelate d probands. All three probands, who were from different ethnic backgrounds, suffered from severe HS requiring splenectomy, Analysis of both intragenic and flanking polymorphisms revealed that these probands did not share a co mmon ankyrin allele, providing evidence that these a common mutations arose independently on separate chromosomal backgrounds, This frameshift mutatio n associated with severe HS, Ankyrin Florianopolis, is the first descriptio n of a recurrent mutation in the ankyrin gene.