A variant Sp1 (R218Q) transcription factor might enhance HbF expression in β0 -thalassaemia homozygotes

A variant Sp1 (R218Q) transcription factor might enhance HbF expression in β⁰ -thalassaemia homozygotes

Br J Haematol. 2018 Mar;180(5):755-757. doi: 10.1111/bjh.14445. Epub 2017 Feb 27.

¹ Departments of Medicine, Pathology and Laboratory Medicine, Boston University School of Medicine, Boston, MA, USA.
² Transcription Imaging Consortium, Janelia Research Campus, Howard Hughes Medical Institute, Ashburn, VA, USA.
³ Departments of Pediatrics, Pathology, Genetics, Yale University School of Medicine, New Haven, CT, USA.
⁴ Scientific Research Centre, College of Science, University of Duhok, Duhok, Iraq.
⁵ Department of Pathology and Scientific Research Centre, College of Medicine, University of Duhok, Duhok, Iraq.
⁶ Departments of Medicine, Genetics, Yale University School of Medicine, New Haven, CT, USA.

No abstract available

Keywords: fetal haemoglobin; single nucleotide polymorphism; transcription factor; β-thalassaemia.