The form discussed here is the one found in the 1950s to be linked to Rh blood group and more recently shown to be caused by a defect in protein 4.1. 'Rh-unlinked' forms of elliptocytosis are caused by mutation in the alpha-spectrin gene (MIM 182860), the beta-spectrin gene (MIM 182870), or the band 3 gene (MIM 109270) [supplied by OMIM].
The form discussed here was identified in the 1950s as being linked to Rh blood group and has more recently been shown due to a defect in protein 4.1. 'Rh-unlinked' forms of elliptocytosis are caused by mutations in genes related to alpha-spectrin, beta-spectrin, or band 3 [supplied by OMIM].