A recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis.

Abstract:

: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.

journal_name

Br J Haematol

authors

Gallagher PG,Ferreira JD,Costa FF,Saad ST,Forget BG

doi

10.1046/j.1365-2141.2000.02441.x

subject

Has Abstract

pub_date

2000-12-01 00:00:00

pages

1190-3

issue

4

eissn

0007-1048

issn

1365-2141

pii

bjh2441

journal_volume

111

pub_type

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