Abstract
Mutations in the ankyrin-1 gene (ANK1) underlie half of the cases of Hereditary Spherocytosis (HS), and of these, two thirds are due to mutations inherited in a dominant pattern, while the others are due to sporadic mutations. Here we report two novel ANK1 mutations responsible for HS (c.1800+1G>A and c.1196_1196delC) and propose possible mechanisms of pathogenicity for each mutation described.
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