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

Blood - Tập 123 - Trang 1586-1595 - 2014
Vip Viprakasit1, Supachai Ekwattanakit2,3, Suchada Riolueang3, Nipon Chalaow3, Chris Fisher4, Karen Lower5, Hitoshi Kanno6, Kalaya Tachavanich1, Sasithorn Bejrachandra7, Jariya Saipin7, Monthana Juntharaniyom8, Kleebsabai Sanpakit1, Voravarn S. Tanphaichitr1, Duantida Songdej4, Christian Babbs4, Richard J. Gibbons4, Sjaak Philipsen9, Douglas R. Higgs4
1Department of Pediatrics & Thalassemia Centre, Mahidol University, Bangkok, Thailand
2Department of Medicine, Mahidol University, Bangkok, Thailand
3MSc-PhD in Immunology Program, Department of Immunology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
4Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Headington, Oxford, United Kingdom
5Department of Hematology and Genetic Pathology, School of Medicine, Flinders University, Adelaide, Australia
6Department of Blood Transfusion Medicine and Cell Processing, Women's Medical College, Tokyo, Japan
7Department of Transfusion Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
8Department of Pediatrics, Khon Kaen Regional Hospital, Ministry of Public Health, Khon Kaen, Thailand
9Erasmus University Medical Center-Cell Biology, Rotterdam, The Netherlands

Tóm tắt

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.

Tài liệu tham khảo

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