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A recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis
Author(s) -
Gallagher Patrick G.,
Ferreira Jovino D. S.,
Costa Fernando F.,
Saad Sara T. O.,
Forget Bernard G.
Publication year - 2000
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.1365-2141.2000.02441.x
Subject(s) - frameshift mutation , hereditary spherocytosis , genetics , ankyrin , proband , mutation , biology , allele , gene
During a survey of typical, dominant hereditary spherocytosis (HS) patients, we identified a frameshift mutation of the ankyrin gene in three unrelated 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 common ankyrin allele, providing evidence that these mutations arose independently on separate chromosomal backgrounds. This frameshift mutation associated with severe HS, Ankyrin Florianópolis, is the first description of a recurrent mutation in the ankyrin gene.