Premium
A previously unrecognized Ankyrin‐1 mutation associated with Hereditary Spherocytosis in an Italian family
Author(s) -
Lazzareschi Ilaria,
Curatola Antonietta,
Pedicelli Cristina,
Castiglia Daniele,
Buonsenso Danilo,
Gatto Antonio,
Attinà Giorgio,
Valentini Piero
Publication year - 2019
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/ejh.13311
Subject(s) - hereditary spherocytosis , ankyrin , genetics , spherocytosis , mutation , hemolytic anemia , sanger sequencing , biology , red blood cell , gene , microbiology and biotechnology , immunology , splenectomy , spleen
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.