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

Ilaria Lazzareschi, Antonietta Curatola*, Cristina Pedicelli, Daniele Castiglia, Danilo Buonsenso, Antonio Gatto, Giorgio Attina', Piero Valentini

*Corresponding author

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

Abstract

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.
Original languageEnglish
Pages (from-to)523-526
Number of pages4
JournalEuropean Journal of Haematology
Volume103
DOIs
Publication statusPublished - 2019

Keywords

  • Ankyrins
  • Child, Preschool
  • Family
  • Female
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Italy
  • Male
  • Point Mutation
  • Spherocytosis, Hereditary
  • molecular cytogenetics
  • pediatric hematology
  • red cell disorders

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