Hb A2-Pistoia [δ89(F5)Ser→Asn, HBD: c.269G>a]: a Novel Mutation on the δ-Globin Gene in an Italian Child

Adriana Guastini; Leonardo Rizzi; Fabiano Santoni; Massimo Mogni; Massimo Maffei; Santina Vinci; Giuseppina Barberio; Domenico Coviello; Giovanni Ivaldi

doi:10.1080/03630269.2020.1815766

Hb A2-Pistoia [δ89(F5)Ser→Asn, HBD: c.269G>a]: a Novel Mutation on the δ-Globin Gene in an Italian Child

Adriana Guastini, Leonardo Rizzi, Fabiano Santoni, Massimo Mogni, Massimo Maffei, Santina Vinci, Giuseppina Barberio, Domenico Coviello, Giovanni Ivaldi

Research output: Contribution to journal › Article › peer-review

Abstract

We describe a new hemoglobin (Hb) variant, found in a 6-year-old Italian male living in Pistoia, Italy. An abnormal pattern compatible with a Hb A2 variant was observed on capillary electrophoresis (CE); direct sequencing revealed a transition at codon 89 of the δ gene (HBD: c.269G>A) changing serine into asparagine. The variant was also identified as Hb A2-Pistoia according to the traditional nomenclature and no other globin defect was present. The observation and description of this Hb A2 variant contributes to the number and heterogeneity of mutations of the δ-globin gene in the Mediterranean Area.

Original language	English
Pages (from-to)	368-370
Number of pages	3
Journal	Hemoglobin
Volume	44
Issue number	5
DOIs	https://doi.org/10.1080/03630269.2020.1815766
Publication status	Published - Sept 2020

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title = "Hb A2-Pistoia [δ89(F5)Ser→Asn, HBD: c.269G>a]: a Novel Mutation on the δ-Globin Gene in an Italian Child",

abstract = "We describe a new hemoglobin (Hb) variant, found in a 6-year-old Italian male living in Pistoia, Italy. An abnormal pattern compatible with a Hb A2 variant was observed on capillary electrophoresis (CE); direct sequencing revealed a transition at codon 89 of the δ gene (HBD: c.269G>A) changing serine into asparagine. The variant was also identified as Hb A2-Pistoia according to the traditional nomenclature and no other globin defect was present. The observation and description of this Hb A2 variant contributes to the number and heterogeneity of mutations of the δ-globin gene in the Mediterranean Area.",

author = "Adriana Guastini and Leonardo Rizzi and Fabiano Santoni and Massimo Mogni and Massimo Maffei and Santina Vinci and Giuseppina Barberio and Domenico Coviello and Giovanni Ivaldi",

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month = sep,

doi = "10.1080/03630269.2020.1815766",

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T1 - Hb A2-Pistoia [δ89(F5)Ser→Asn, HBD

T2 - c.269G>a]: a Novel Mutation on the δ-Globin Gene in an Italian Child

AU - Guastini, Adriana

AU - Rizzi, Leonardo

AU - Santoni, Fabiano

AU - Mogni, Massimo

AU - Maffei, Massimo

AU - Vinci, Santina

AU - Barberio, Giuseppina

AU - Coviello, Domenico

AU - Ivaldi, Giovanni

PY - 2020/9

Y1 - 2020/9

N2 - We describe a new hemoglobin (Hb) variant, found in a 6-year-old Italian male living in Pistoia, Italy. An abnormal pattern compatible with a Hb A2 variant was observed on capillary electrophoresis (CE); direct sequencing revealed a transition at codon 89 of the δ gene (HBD: c.269G>A) changing serine into asparagine. The variant was also identified as Hb A2-Pistoia according to the traditional nomenclature and no other globin defect was present. The observation and description of this Hb A2 variant contributes to the number and heterogeneity of mutations of the δ-globin gene in the Mediterranean Area.

AB - We describe a new hemoglobin (Hb) variant, found in a 6-year-old Italian male living in Pistoia, Italy. An abnormal pattern compatible with a Hb A2 variant was observed on capillary electrophoresis (CE); direct sequencing revealed a transition at codon 89 of the δ gene (HBD: c.269G>A) changing serine into asparagine. The variant was also identified as Hb A2-Pistoia according to the traditional nomenclature and no other globin defect was present. The observation and description of this Hb A2 variant contributes to the number and heterogeneity of mutations of the δ-globin gene in the Mediterranean Area.

U2 - 10.1080/03630269.2020.1815766

DO - 10.1080/03630269.2020.1815766

M3 - Article

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SN - 0363-0269

VL - 44

SP - 368

EP - 370

JO - Hemoglobin

JF - Hemoglobin

IS - 5

ER -

Hb A2-Pistoia [δ89(F5)Ser→Asn, HBD: c.269G>a]: a Novel Mutation on the δ-Globin Gene in an Italian Child

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