Does the Novel KLF1 Gene Mutation Lead to a Delay in Fetal Hemoglobin Switch?

2017 ◽  
Vol 81 (3) ◽  
pp. 125-128 ◽  
Author(s):  
Priya Hariharan ◽  
Manju Gorivale ◽  
Roshan Colah ◽  
Kanjaksha Ghosh ◽  
Anita Nadkarni
Keyword(s):  
Gene Mutation ◽  
Fetal Hemoglobin ◽  
The Novel ◽  
Klf1 Gene

Delayed fetal hemoglobin switching in subjects with KLF1 gene mutation

2012 ◽  
Vol 48 (1) ◽  
pp. 22-24 ◽  
Author(s):  
Stefania Satta ◽  
Lucia Perseu ◽  
Liliana Maccioni ◽  
Nicolina Giagu ◽  
Renzo Galanello
Keyword(s):  
Gene Mutation ◽  
Fetal Hemoglobin ◽  
Hemoglobin Switching ◽  
Klf1 Gene

A fatal turkish case of CINCA-NOMID syndrome due to the novel Val-351-Leu CIAS1 gene mutation

2007 ◽  
Vol 28 (4) ◽  
pp. 379-383 ◽  
Author(s):  
Zubeyde Gunduz ◽  
Ismail Dursun ◽  
Juan I. Aróstegui ◽  
Jordi Yagüe ◽  
Ruhan Dusunsel ◽  
...  
Keyword(s):  
Gene Mutation ◽  
The Novel ◽  
Turkish Case

scholarly journals The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment

2011 ◽  
Vol 20 (3) ◽  
pp. 357-360 ◽  
Author(s):  
Dario Ronchi ◽  
Monica Sciacco ◽  
Andreina Bordoni ◽  
Monika Raimondi ◽  
Michela Ripolone ◽  
...  
Keyword(s):  
Gene Mutation ◽  
The Novel ◽  
Respiratory Impairment

scholarly journals Novel variants in Krueppel Like Factor 1 that cause Persistence of Fetal Hemoglobin in In(Lu) individuals

2021 ◽  
Author(s):  
Jesse Eernstman ◽  
Barbera Veldhuisen ◽  
Peter Ligthart ◽  
Marieke von Lindern ◽  
Ellen van der Schoot ◽  
...  
Keyword(s):  
Flow Cytometry ◽  
Transcription Factor ◽  
Blood Group ◽  
High Frequency ◽  
Fetal Hemoglobin ◽  
Donor Group ◽  
Wild Type ◽  
Novel Variants ◽  
Klf1 Gene ◽  
Indian Blood

Abstract Beta-hemoglobinopathies become prominent after birth due to a switch from γ-globin to the mutated β-globin. Haploinsufficiency for the erythroid specific indispensable transcription factor Krueppel-like factor 1 (KLF1) is associated with high persistence of fetal hemoglobin (HPFH). The In(Lu) phenotype, characterized by low to undetectable Lutheran blood group expression is caused by mutations within KLF1 gene. These KLF1 variants often lead to KLF1 haploinsufficiency. We screened a donor cohort of 55 Lutheran weak or negative donors for KLF1 variants. To discriminate between weak and negative Lutheran expression, a flow cytometry (FCM) assay was developed to detect Lu polymorphisms. The Lu(a-b-) (negative) donor group, showing a significant decreased CD44 (Indian blood group) expression, also showed increased HbF and HbA2 levels, with outliers expressing >5% HbF. KLF1 exons and promoter sequencing revealed variants in 80% of the Lutheran negative donors. Thirteen different variants plus one high frequency SNP (c.304T>C) were identified of which 6 were novel. In primary erythroblasts, knockdown of endogenous KLF1 resulted in decreased CD44, Lu and increased HbF expression, while KLF1 over-expressing cells were comparable to wild type (WT). In line with the pleiotropic effects of KLF1 during erythropoiesis, distinct KLF1 mutants expressed in erythroblasts display different abilities to rescue CD44 and Lu expression and/or to affect fetal (HbF) or adult (HbA) hemoglobin expression.

Nine known and five novel mutations in the erythroid transcription factor KLF1 gene and phenotypic expression of fetal hemoglobin in hemoglobin E disorder

2016 ◽  
Vol 59 ◽  
pp. 85-91 ◽  
Author(s):  
Wanicha Tepakhan ◽  
Supawadee Yamsri ◽  
Kanokwan Sanchaisuriya ◽  
Goonnapa Fucharoen ◽  
Xiangmin Xu ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Phenotypic Expression ◽  
Fetal Hemoglobin ◽  
Novel Mutations ◽  
Hemoglobin E ◽  
Klf1 Gene

scholarly journals Engineered zinc‐finger nuclease to generate site‐directed modification in the KLF1 gene for fetal hemoglobin induction

2018 ◽  
Vol 120 (5) ◽  
pp. 8438-8446 ◽  
Author(s):  
Laleh Shariati ◽  
Mohammad Hossein Modarressi ◽  
Mohammad Amin Tabatabaiefar ◽  
Shirin Kouhpayeh ◽  
Zahra Hejazi ◽  
...  
Keyword(s):  
Zinc Finger ◽  
Fetal Hemoglobin ◽  
Zinc Finger Nuclease ◽  
Klf1 Gene

Functional analysis of a novel KLF1 gene promoter variation associated with hereditary persistence of fetal hemoglobin

2012 ◽  
Vol 92 (1) ◽  
pp. 53-58 ◽  
Author(s):  
Milena Radmilovic ◽  
Branka Zukic ◽  
Maja Stojiljkovic Petrovic ◽  
Marina Bartsakoulia ◽  
Biljana Stankovic ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Gene Promoter ◽  
Fetal Hemoglobin ◽  
Hereditary Persistence ◽  
Klf1 Gene

The Novel WT1 Gene Mutation p.H377N Associated to Denys-Drash Syndrome

2010 ◽  
Vol 32 (6) ◽  
pp. 486-488 ◽  
Author(s):  
Mara Sanches Guaragna ◽  
Fernanda Caroline Soardi ◽  
Juliana Godoy Assumpção ◽  
Lílian de Jesus Girotto Zambaldi ◽  
Izilda Aparecida Cardinalli ◽  
...  
Keyword(s):  
Gene Mutation ◽  
The Novel ◽  
Wt1 Gene ◽  
Drash Syndrome
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