Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults
نویسندگان
چکیده
منابع مشابه
Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults.
We investigated whether mutations in the KLF1 gene are associated with increased Hb F levels in ethnically diverse patients referred to our laboratory for hemoglobinopathy investigation. Functionally effective KLF1 mutations were identified in 11 out of 131 adult samples with an elevated Hb F level (1.5-25.0%). Eleven different mutations were identified, 9 of which were previously unreported. K...
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Department of Applied Biomedical Science, Faculty of Health Sciences, University of Malta; Laboratory of Molecular Genetics, Department of Physiology & Biochemistry, University of Malta, Malta; University of Patras, Department of Pharmacy, University Campus, Patras, Greece; Thalassaemia Clinic, Section of Pathology, Mater Dei Hospital, Msida, Malta; Erasmus MC, Department of Cell Biology; Nethe...
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The persistence of high fetal hemoglobin level in adults may ameliorate the clinical phenotype of beta-thalassemia and sickle cell anemia. Several genetic variants responsible for hereditary persistence of fetal hemoglobin, linked and not linked to the beta globin gene cluster, have been identified in patients and in normal individuals. Monoallelic loss of KLF1, a gene with a key role in erythr...
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UNLABELLED Although increased fetal hemoglobin (HbF) levels have proven benefit for people with β-hemoglobinopathies, all current HbF-inducing agents have limitations. We previously reported that drugs that activate the NRF2 antioxidant response signaling pathway increase HbF in primary human erythroid cells. In an attempt to increase HbF levels achieved with NRF2 activators, in the present stu...
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ژورنال
عنوان ژورنال: Haematologica
سال: 2011
ISSN: 0390-6078,1592-8721
DOI: 10.3324/haematol.2011.055442