A new gene associated with a β-thalassemia phenotype: the observation of variants in SUPT5H-Reference-Cited by-同舟云学术

A new gene associated with a β-thalassemia phenotype: the observation of variants in SUPT5H

Published:2020-10-08 Issue:15 Volume:136 Page:1789-1793
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Achour Ahlem¹,Koopmann Tamara¹,Castel Rob²,Santen Gijs W. E.¹^ORCID,den Hollander Nicolette¹^ORCID,Knijnenburg Jeroen¹^ORCID,Ruivenkamp Claudia A. L.¹,Arkesteijn Sandra G. J.¹,ter Huurne Jeanet¹,Bisoen Sharda¹,Verschuren Maaike¹,Vijfhuizen Linda¹,Schaap Rianne¹,Grimbergen Anneliese¹,Slomp Jennichjen³,Traeger-Synodinos Joanne⁴^ORCID,Vrettou Christina⁴,Pissard Serge⁵^ORCID,Galacteros Frederic⁶^ORCID,Baas Frank¹,Harteveld Cornelis L.¹^ORCID

Affiliation:

1. Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands;

2. Result Laboratorium, Dordrecht, The Netherlands;

3. Department of Clinical Chemistry, Medlon/Medisch Spectrum Twente, Enschede, The Netherlands;

4. Laboratory of Medical Genetics, National and Kapodistrian University of Athens, Choremeio Research Laboratory, St. Sophia's Children's Hospital, Athens, Greece;

5. Genetic Department, GHU Henri-Mondor, Assistance Publique–Hôpitaux de Paris, UPEC/IMRB - U955 EQ2 and GrEX, Creteil, France; and

6. Red Cell Genetic Disease Unit, GHU Henri-Mondor, Assistance Publique–Hôpitaux de Paris, Université Paris Est/IMRB - U955 EQ2, Créteil, France

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/136/15/1789/1760625/bloodbld2020005934.pdf

Reference20 articles.

1. Beta-thalassemia;Cao;Genet Med,2010

2. The Thalassaemia Syndromes

3. EMQN best practice guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies [published correction appears in Eur J Hum Genet. 2015;23(4):560];Traeger-Synodinos;Eur J Hum Genet,2015

4. The molecular basis of β-thalassemia;Thein;Cold Spring Harb Perspect Med,2013

5. State of the art and new developments in molecular diagnostics for hemoglobinopathies in multiethnic societies;Harteveld;Int J Lab Hematol,2014

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1. Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia;International Journal of Molecular Sciences;2024-08-16

2. Beta-thalassemia trait associated with a heterozygous loss-of-function variant of SUPT5H in a Southern Chinese family;QJM: An International Journal of Medicine;2024-06-06

3. SUPT5H mutations associated with elevation of Hb A2 level: Identification of two novel variants and literature review;Gene;2024-05

4. Emerging Roles of SPT5 in Transcription;Cellular Physiology and Biochemistry;2023-10-23

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