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

被引：1
作者：
Guastini, Adriana [1 ]
Rizzi, Leonardo [1 ]
Santoni, Fabiano [1 ]
Mogni, Massimo [2 ]
Maffei, Massimo [2 ]
Vinci, Santina [3 ]
Barberio, Giuseppina [4 ]
Coviello, Domenico [2 ]
Ivaldi, Giovanni [2 ]
机构：
[1] Osped San Jacopo, Lab Anal, Pistoia, Italy
[2] Ist Giannina Gaslini, Ist Ricovero & Cura Carattere Sci IRCCS, Lab Genet Umana, Genoa, Italy
[3] Sebia Italia Soc Responsabilita Limita Srl, Florence, Italy
[4] Osped Treviso, Azienda Unita Locale Sociosanit ULSS 9, Med Lab, Treviso, Italy
来源：
HEMOGLOBIN | 2020年 / 44卷 / 05期
关键词：
delta-globin variant; Hb A(2) variant; hemoglobinopathy; BETA-THALASSEMIA; HEMOGLOBIN; IDENTIFICATION; POPULATION; GUIDELINES; DIAGNOSIS; ALLELES; CRETEIL;
D O I：
10.1080/03630269.2020.1815766
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
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 A(2) variant was observed on capillary electrophoresis (CE); direct sequencing revealed a transition at codon 89 of the delta gene (HBD: c.269G>A) changing serine into asparagine. The variant was also identified as Hb A(2)-Pistoia according to the traditional nomenclature and no other globin defect was present. The observation and description of this Hb A(2) variant contributes to the number and heterogeneity of mutations of the delta-globin gene in the Mediterranean Area.
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收藏
页码：368 / 370
页数：3
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