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Ankyrin deficiency in dominant hereditary spherocytosis: report of three cases
Author(s) -
Iolascon Achille,
Del Giudice Manuele Miraglia,
Camaschella Clara,
Pinto Luciano,
Nobili Bruno,
Perrotta Silverio,
Cutillo Stefano
Publication year - 1991
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1991.tb04487.x
Subject(s) - hereditary spherocytosis , ankyrin , spherocytosis , spectrin , genetics , biology , mutation , gene , immunology , splenectomy , spleen , cytoskeleton , cell
Summary 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 oneof 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.