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

Research output: Contribution to journalArticle

Abstract

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
Volume78
Issue number4
Publication statusPublished - 1991

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Hereditary Spherocytosis
Ankyrins
Spectrin
Chromosomes, Human, Pair 8
Mutation
Cytogenetic Analysis
Genes

ASJC Scopus subject areas

  • Hematology

Cite this

Iolascon, A., Miraglia Del Giudice, E., Camaschella, C., Pinto, L., Nobili, B., Perrotta, S., & Cutillo, S. (1991). Ankyrin deficiency in dominant hereditary spherocytosis: Report of three cases. British Journal of Haematology, 78(4), 551-554.

Ankyrin deficiency in dominant hereditary spherocytosis : Report of three cases. / Iolascon, A.; Miraglia Del Giudice, E.; Camaschella, C.; Pinto, L.; Nobili, B.; Perrotta, S.; Cutillo, S.

In: British Journal of Haematology, Vol. 78, No. 4, 1991, p. 551-554.

Research output: Contribution to journalArticle

Iolascon, A, Miraglia Del Giudice, E, Camaschella, C, Pinto, L, Nobili, B, Perrotta, S & Cutillo, S 1991, 'Ankyrin deficiency in dominant hereditary spherocytosis: Report of three cases', British Journal of Haematology, vol. 78, no. 4, pp. 551-554.
Iolascon A, Miraglia Del Giudice E, Camaschella C, Pinto L, Nobili B, Perrotta S et al. Ankyrin deficiency in dominant hereditary spherocytosis: Report of three cases. British Journal of Haematology. 1991;78(4):551-554.
Iolascon, A. ; Miraglia Del Giudice, E. ; Camaschella, C. ; Pinto, L. ; Nobili, B. ; Perrotta, S. ; Cutillo, S. / Ankyrin deficiency in dominant hereditary spherocytosis : Report of three cases. In: British Journal of Haematology. 1991 ; Vol. 78, No. 4. pp. 551-554.
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