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

doi:10.1111/ejh.13311

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

^*Autore corrispondente per questo lavoro

IRCCS Istituto Dermopatico dell'Immacolata - Roma

Risultato della ricerca: Contributo in rivista › Articolo in rivista › peer 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 originale	English
pagine (da-a)	523-526
Numero di pagine	4
Rivista	European Journal of Haematology
Volume	103
DOI	https://doi.org/10.1111/ejh.13311
Stato di pubblicazione	Pubblicato - 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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10.1111/ejh.13311

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title = "A previously unrecognized Ankyrin-1 mutation associated with Hereditary Spherocytosis in an Italian family",

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.",

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

author = "Ilaria Lazzareschi and Antonietta Curatola and Cristina Pedicelli and Daniele Castiglia and Danilo Buonsenso and Antonio Gatto and Giorgio Attina' and Piero Valentini",

year = "2019",

doi = "10.1111/ejh.13311",

language = "English",

volume = "103",

pages = "523--526",

journal = "European Journal of Haematology",

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TY - JOUR

T1 - A previously unrecognized Ankyrin-1 mutation associated with Hereditary Spherocytosis in an Italian family

AU - Lazzareschi, Ilaria

AU - Curatola, Antonietta

AU - Pedicelli, Cristina

AU - Castiglia, Daniele

AU - Buonsenso, Danilo

AU - Gatto, Antonio

AU - Attina', Giorgio

AU - Valentini, Piero

PY - 2019

Y1 - 2019

N2 - 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.

AB - 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.

KW - Ankyrins

KW - Child, Preschool

KW - Family

KW - Female

KW - High-Throughput Nucleotide Sequencing

KW - Humans

KW - Italy

KW - Male

KW - Point Mutation

KW - Spherocytosis, Hereditary

KW - molecular cytogenetics

KW - pediatric hematology

KW - red cell disorders

KW - Ankyrins

KW - Child, Preschool

KW - Family

KW - Female

KW - High-Throughput Nucleotide Sequencing

KW - Humans

KW - Italy

KW - Male

KW - Point Mutation

KW - Spherocytosis, Hereditary

KW - molecular cytogenetics

KW - pediatric hematology

KW - red cell disorders

UR - http://hdl.handle.net/10807/148683

U2 - 10.1111/ejh.13311

DO - 10.1111/ejh.13311

M3 - Article

SN - 1600-0609

VL - 103

SP - 523

EP - 526

JO - European Journal of Haematology

JF - European Journal of Haematology

ER -

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

Abstract

Keywords

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