Journal article icon

Journal article

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

Abstract:

In this study, we report on 8 compound heterozygotes for mutations in the key erythroid transcription factor Krüppel-like factor 1 in patients who presented with severe, transfusion-dependent hemolytic anemia. In most cases, the red cells were hypochromic and microcytic, consistent with abnormalities in hemoglobin synthesis. In addition, in many cases, the red cells resembled those seen in patients with membrane defects or enzymopathies, known as chronic nonspherocytic hemolytic anemia (CNSHA...

Expand abstract
Publication status:
Published
Peer review status:
Peer reviewed

Actions


Access Document


Authors


Viprakasit, V More by this author
Ekwattanakit, S More by this author
Riolueang, S More by this author
Chalaow, N More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Molecular Medicine
Expand authors...
Publisher:
American Society of Hematology Publisher's website
Journal:
Blood Journal website
Volume:
123
Issue:
10
Pages:
1586-1595
Publication date:
2014-03-05
DOI:
EISSN:
1528-0020
ISSN:
0006-4971
URN:
uuid:8e9b67ef-b983-4a8c-a5ed-abde898bdd0d
Source identifiers:
446660
Local pid:
pubs:446660

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP