Two novel mutations in <i>KLF1</i> were identified in Chinese individuals with In(Lu) phenotype

Chen, Shu; Hong, Xiaozhen; Xu, Xianguo; He, Ji; Zhu, Faming

doi:10.1111/trf.14391

Cited by 4 publications

(5 citation statements)

References 5 publications

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“…In(Lu) donors were identified through standard screening and subsequently underwent KLF1 /blood group genotyping, flow cytometric analysis, and hemoglobin profile analysis. The incidence of the Lu(a–b–) phenotype has been reported to be 1 in 3000 in South East England, 1 in 5040 in South Wales, and as high as 3.15% of North Indian blood donors while in other studies, the In(Lu) phenotype had a prevalence of 1 in 2710 in China and 1 in 4813 in Japan . It should be noted that the frequency of KLF1 variants fluctuates significantly between populations.…”

Section: Discussionmentioning

confidence: 89%

“…There are currently 61 known KLF1 variants associated with the In(Lu) phenotype . Genotyping for KLF1 revealed two novel variants: c.421C>T (p.Arg141*) and c.954G>C (p.Trp318Cys), which have each been assigned clinical significance database accession numbers SCV000692593 and SCV000298179, respectively.…”

Section: Discussionmentioning

confidence: 99%

“…In addition, the association between altered levels of RBC surface molecules and specific variants in KLF1 has not been defined. There are currently 61 known KLF1 variants associated with the In(Lu) phenotype . We hypothesize that there is interindividual variability within the In(Lu) phenotype that is associated with particular KLF1 variants.…”

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confidence: 99%

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Investigation of the variable In(Lu) phenotype caused by KLF1 variants

et al. 2018

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Section: Discussionmentioning

confidence: 89%

Section: Discussionmentioning

confidence: 99%

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Investigation of the variable In(Lu) phenotype caused by KLF1 variants

et al. 2018

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“…The changes are benign as all individuals with heterozygous KLF1 mutation and In(Lu) blood group are asymptomatic. Several reports confirm the association of the In(Lu) blood group with the heterozygous KLF1 mutation 23–25 …”

Section: Introductionmentioning

confidence: 87%

“…Several reports confirm the association of the In(Lu) blood group with the heterozygous KLF1 mutation. [23][24][25] Recently, Viprakasit et al reported for the first time that compound heterozygosity of KLF1 mutations was a cause of severe transfusion-dependent haemolytic anaemia. 26 The haematologic phenotypes were extensively characterized.…”

Section: Introductionmentioning

confidence: 99%

Severe neonatal haemolytic anaemia caused by compound heterozygous KLF1 mutations: report of four families and literature review

et al. 2021

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Mutations in the KLF1 gene, which encodes a transcription factor playing a role in erythropoiesis, have recently been demonstrated to be a rare cause of hereditary haemolytic anaemia. We described the genotypic and phenotypic spectra of four unrelated families with compound heterozygous class 2/class 3 KLF1 mutations. All patients had p.G176RfsX179 on one allele and either p.A298P, p.R301H or p.G335R on the other allele. All presented on the first day of life with severe haemolytic anaemia with abnormal red blood cell morphology, markedly increased nucleated red blood cells and hyperbilirubinaemia. Three patients later became transfusion-dependent. All parents with heterozygous KLF1 mutation without co-inherited thalassaemia had normal to borderline mean corpuscular volume (MCV) and normal to slightly elevated Hb F. Fifteen previously reported cases of biallelic KLF1 mutations were identified from a literature review. All except one presented with severe haemolytic anaemia in the neonatal period. Our finding substantiates that compound heterozygous KLF1 mutations are associated with severe neonatal haemolytic anaemia and expands the haematologic phenotypic spectrum. In carriers, the previously suggested findings of low MCV, high Hb A 2 and high Hb F are inconsistent; thus this necessitates molecular studies for the identification of carriers.

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Genetic Variants Within the Erythroid Transcription Factor, KLF1, and Reduction of the Expression of Lutheran and Other Blood Group Antigens: Review of the In(Lu) Phenotype

Fraser

Knauth

Moussa

et al. 2019

Transfusion Medicine Reviews

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Erythroid-specific Krüppel-like factor 1, or KLF1, is an integral transcriptional activator for erythropoiesis. Genetic variants within KLF1 can result in a range of erythropoietic clinical phenotypes from benign to significant. The In(Lu) phenotype refers to changes in the quantitative expression of blood group associated red cell surface molecules due to KLF1 variants which are otherwise clinically benign.These clinically benign KLF1 variants are associated with a reduced expression of one or more red cell membrane proteins/carbohydrates that carry blood group antigens for the LU (Lutheran), IN (Indian), P1PK, LW (Landsteiner-Wiener), KN (Knops), OK, RAPH and I blood group systems. This is of significance during routine serologic blood typing when expression falls below the test sensitivity and therefore impacts on the ability to accurately detect the presence of affected blood group antigens. This is of clinical importance since the transfusion requirements for individuals with the

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Two novel mutations in KLF1 were identified in Chinese individuals with In(Lu) phenotype

Cited by 4 publications

References 5 publications

Investigation of the variable In(Lu) phenotype caused by KLF1 variants

Investigation of the variable In(Lu) phenotype caused by KLF1 variants

Severe neonatal haemolytic anaemia caused by compound heterozygous KLF1 mutations: report of four families and literature review

Genetic Variants Within the Erythroid Transcription Factor, KLF1, and Reduction of the Expression of Lutheran and Other Blood Group Antigens: Review of the In(Lu) Phenotype

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