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

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

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

1 Citazioni (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.
Lingua originaleEnglish
pagine (da-a)523-526
Numero di pagine4
RivistaEuropean Journal of Haematology
Volume103
DOI
Stato di pubblicazionePubblicato - 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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