Homozygous KLF1 mutation c.901C>T (p.Arg301Cys) resulting in mild thalassemia intermedia in an Indian: A next-generation sequencing diagnosis
Author:
Funder
Institutional Funds
Department of Biotechnology
Publisher
Elsevier BV
Subject
Cell Biology,Hematology,Molecular Biology,Molecular Medicine
Reference10 articles.
1. Beta-thalassemia;Galanello;Orphanet J. Rare Dis.,2010
2. Association of an α-globin gene cluster duplication and heterozygous β-thalassemia in a patient with a severe thalassemia syndrome;Jiang;Hemoglobin,2015
3. Erythroid Kruppel-like factor mutations are relatively more common in a thalassemia endemic region and ameliorate the clinical and hematological severity of beta-thalassemia;Liu;Blood,2014
4. Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype;Singleton;Blood,2008
5. Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin;Borg;Nat. Genet.,2010
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1. Molecular and haematological characterisation of haemolytic anaemia associated with biallelic KLF1 mutations: a case series;Journal of Clinical Pathology;2023-07-28
2. Hematopoietic cell transplantation for congenital dyserythropoietic anemia IV caused by compound heterozygous KLF1 mutations;Annals of Hematology;2023-03-31
3. Whole‐exome sequencing uncovered genetic diagnosis of severe inherited haemolytic anaemia: Correlation with clinical phenotypes;British Journal of Haematology;2022-07-12
4. Severe neonatal haemolytic anaemia caused by compound heterozygous KLF1 mutations: report of four families and literature review;British Journal of Haematology;2021-07-05
5. Compound Heterozygosity for KLF1 Mutations Causing Hemolytic Anemia in Children: A Case Report and Literature Review;Frontiers in Genetics;2021-06-25
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