The Importance of Characterizing the Hemoglobin Instability of New Variants: The Case of Hb Dompierre [β29(B11)Gly→Arg, HBB: c.88G>C]-Reference-Cited by-同舟云学术

The Importance of Characterizing the Hemoglobin Instability of New Variants: The Case of Hb Dompierre [β29(B11)Gly→Arg, HBB: c.88G>C]

Published:2020-01-02 Issue:1 Volume:44 Page:13-16
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Mondesert Etienne¹,Giansily Blaizot Muriel¹,Tournilhac Olivier²,Sapin Anne François Serre³,Aubin Bernard⁴,Pellequer Jean-Luc⁵,Aguilar Martinez Patricia¹

Affiliation:

1. Department of Biological Hematology, CHU Montpellier, Montpellier, France;

2. Department of Clinical Hematology, CHU Clermont-Ferrand, Clermont-Ferrand, France;

3. Department of Biological Hematology, CHU Clermont-Ferrand, Clermont-Ferrand, France;

4. Department of Internal Medicine, CH Moulins Yzeure, Moulins, France;

5. Institute of Structural Biology, University of Grenoble Alpes, CEA, CNRS, Grenoble, France

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/03630269.2020.1721021

Reference10 articles.

1. Description of Three NewαVariants and Four NewβVariants: Hb Montluel [α110(G17)Ala → Val;HBA1: c.332C > T], Hb Cap d’Agde [α131(H14)Ser → Cys;HBA2: c.395C > G] and Hb Corsica [α100(G7)Leu → Pro;HBA1: 302T > C]; Hb Nîmes [β104(G6)Arg → Gly;HBB: c.313A > G], Hb Saint Marcellin [β112(G14)Cys → Gly;HBB: c.337T > G], Hb Saint Chamond [β80(EF4)Asn → 0;HBB: c.241_243delAAC] and Hb Dompierre [β29(B11)Gly → Arg;HBB: c.88G > C]

2. HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server

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

4. A Simple Method for the Detection of Unstable Haemoglobins