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

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

Published:2020-09-02 Issue:5 Volume:44 Page:368-370
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Guastini Adriana¹,Rizzi Leonardo¹,Santoni Fabiano¹,Mogni Massimo²,Maffei Massimo²,Vinci Santina³,Barberio Giuseppina⁴,Coviello Domenico²^ORCID,Ivaldi Giovanni²

Affiliation:

1. Laboratorio Analisi, Ospedale San Jacopo, Pistoia, Italia

2. Laboratorio Genetica Umana, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Giannina Gaslini, Genova, Italia

3. Sebia-Italia Società a Responsabilità Limita (S.r.l.), Firenze, Italia

4. Medicina di Laboratorio, Ospedale di Treviso, Azienda Unità Locale Socio-Sanitaria (ULSS No. 9), Treviso, Italia

Funder

Sebia-Italia S.r.l.

Publisher

Informa UK Limited

Subject

Biochemistry, medical,Clinical Biochemistry,Genetics(clinical),Hematology

Link

https://www.tandfonline.com/doi/pdf/10.1080/03630269.2020.1815766

Reference17 articles.

1. EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies

2. Significant haemoglobinopathies: guidelines for screening and diagnosis

3. The role of haemoglobin A2 testing in the diagnosis of thalassaemias and related haemoglobinopathies

4. Strategies for basic laboratory diagnostics of the hemoglobinopathies in multi-ethnic societies: interpretation of results and pitfalls

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