Mutations in Krüppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression-Reference-Cited by-同舟云学术

Mutations in Krüppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression

Published:2014-03-06 Issue:10 Volume:123 Page:1586-1595
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Viprakasit Vip¹,Ekwattanakit Supachai²³,Riolueang Suchada³,Chalaow Nipon³,Fisher Chris⁴,Lower Karen⁵,Kanno Hitoshi⁶,Tachavanich Kalaya¹,Bejrachandra Sasithorn⁷,Saipin Jariya⁷,Juntharaniyom Monthana⁸,Sanpakit Kleebsabai¹,Tanphaichitr Voravarn S.¹,Songdej Duantida⁴,Babbs Christian⁴,Gibbons Richard J.⁴,Philipsen Sjaak⁹,Higgs Douglas R.⁴

Affiliation:

1. Department of Pediatrics & Thalassemia Centre,

2. Department of Medicine, and

3. MSc-PhD in Immunology Program, Department of Immunology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand;

4. Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Headington, Oxford, United Kingdom;

5. Department of Hematology and Genetic Pathology, School of Medicine, Flinders University, Adelaide, Australia;

6. Department of Blood Transfusion Medicine and Cell Processing, Women's Medical College, Tokyo, Japan;

7. Department of Transfusion Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand;

8. Department of Pediatrics, Khon Kaen Regional Hospital, Ministry of Public Health, Khon Kaen, Thailand; and

9. Erasmus University Medical Center-Cell Biology, Rotterdam, The Netherlands

Abstract

Key Points KLF1 mutations cause severe congenital hemolytic anemia associated with a deficiency of red cell pyruvate kinase. A severe KLF1 deficiency causes hereditary persistence of embryonic globin synthesis.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/123/10/1586/1374948/1586.pdf

Reference42 articles.

1. Worldwide prevalence of anaemia, WHO Vitamin and Mineral Nutrition Information System, 1993-2005.;McLean;Public Health Nutr,2009

2. Global epidemiology of haemoglobin disorders and derived service indicators.;Modell;Bull World Health Organ,2008

3. Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin.;Borg;Nat Genet,2010

4. KLF1 regulates BCL11A expression and gamma- to beta-globin gene switching.;Zhou;Nat Genet,2010

5. The multifunctional role of EKLF/KLF1 during erythropoiesis.;Siatecka;Blood,2011

Cited by 78 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Hemoglobin Bart’s hydrops fetalis: charting the past and envisioning the future;Blood;2024-08-22

2. Mutations in linker-2 of KLF1 impair expression of membrane transporters and cytoskeletal proteins causing hemolysis;Nature Communications;2024-08-15

3. Impact of transcription factors KLF1 and GATA1 on red blood cell antigen expression: a review;Immunohematology;2024-04-01

4. Targeted next-generation sequencing and long-read HiFi sequencing provide novel insights into clinically significant KLF1 variants;BMC Genomics;2024-03-01

5. The kruppel-like factor (KLF) family, diseases, and physiological events;Gene;2024-02