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

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