Ankyrin deficiency in dominant hereditary spherocytosis: Report of three cases

A. Iolascon, E. Miraglia Del Giudice, C. Camaschella, L. Pinto, B. Nobili, S. Perrotta, S. Cutillo

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We describe three Italian subjects from two unrelated families affected with isolated hereditary spherocytosis (HS) without other clinical abnormalities, associated with partial spectrin and ankyrin deficiency. In both families the propositus has normal biological parents, and thus appears to be the result of a new mutation; in one of them the disease is further transmitted in an autosomal dominant fashion. Cytogenetic analysis of the latter family excluded abnormalities of the short arm of chromosome 8. We speculate that in both kindreds ankyrin deficiency is the primary defect related to ankyrin gene mutation. Several pieces of evidence suggest that ankyrin deficiency is probably the most common molecular defect in HS. It is inherited in a dominant manner and its clinical and biochemical expression is heterogenous.

Original languageEnglish
Pages (from-to)551-554
Number of pages4
JournalBritish Journal of Haematology
Issue number4
Publication statusPublished - 1991

ASJC Scopus subject areas

  • Hematology


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