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A previously unrecognized Ankyrin-1 mutation associated with Hereditary Spherocytosis in an Italian family

Ilaria Lazzareschi1,2, Antonietta Curatola2, Cristina Pedicelli3

  • 1Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

European Journal of Haematology
|August 11, 2019
PubMed

Hereditary spherocytosis is the most common inherited hemolytic anemia characterized by the presence of spherical-shaped erythrocytes on peripheral blood smear. The clinical manifestations of HS are highly variable, from severe forms to asymptomatic forms. HS is caused by defects in red blood cell membrane proteins, encoded by the ANK1, EPB42, SLC4A1, SPTA1 and SPTB genes. Mutation of the ANK 1 gene is the most common and inheritance is autosomal dominant in 75% of cases. In our case, heterozygous an ANK1 c.4123C > T mutation was identified in a 4-year-old girl, using targeted next-generation sequencing and Sanger sequencing.

Keywords:
molecular cytogeneticspediatric hematologyred cell disorders

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