Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel mutations in KLF1 encoding the In(Lu) phenotype reflect a diversity of clinical presentations.

Transfusion - 1 Jan 2018

Keller Jessica, Vege Sunitha, Horn Trina, Keller Margaret A, Leger Regina M, Aeschlimann Judith, Lomas-Francis Christine, Westhoff Connie M

Abstract excerpt

BACKGROUND: Mutation in the KLF1 gene is the cause of the In(Lu) (Inhibitor of Lutheran) Lu(a-b-) phenotype and more than 60 alleles have been associated with this phenotype. Here we describe findings from investigation of seven cases: six presenting with a Lu(a-b-) phenotype including the historical index case and one referred from a patient with chronic anemia. STUDY DESIGN AND METHODS: Serologic testing was by...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Anemia
Share to Anemia, Dyserythropoietic, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Blood Donors

Share to Cryopreservation

Share to Genetic Pleiotropy

Share to Isoantibodies

Share to Kruppel-Like Transcription Factors

Share to Point Mutation

Source

Identifiers

PMID: 29047116
DOI: 10.1111/trf.14378

Genes

KLF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutations in KLF1 encoding the In(Lu) phenotype reflect a diversity of clinical presentations.PMID 29047116Read ↗

Novel variants in Krueppel like factor 1 that cause persistence of fetal hemoglobin in In(Lu) individuals.Semantic proximity Read ↗

Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype.Semantic proximity Read ↗

Molecular analysis of the rare in(Lu) blood type: toward decoding the phenotypic outcome of haploinsufficiency for the transcription factor KLF1.Semantic proximity Read ↗

Targeted next-generation sequencing and long-read HiFi sequencing provide novel insights into clinically significant KLF1 variants.Semantic proximity Read ↗

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) PhenotypeSemantic proximity Read ↗

Erythroid transcription factor EKLF/KLF1 mutation causing congenital dyserythropoietic anemia type IV in a patient of Taiwanese origin: review of all reported cases and development of a clinical diagnostic paradigm.Semantic proximity Read ↗

An insertion/deletion polymorphism in the KLF1 gene resulting in an In(Lu) phenotype.Semantic proximity Read ↗

Mutations of the KLF1 gene detected in Japanese with the In(Lu) phenotype.Semantic proximity Read ↗

A Very Rare Congenital Dyserythropoietic Anemia Variant-Type IV in a Patient With a Novel Mutation in the KLF1 Gene: A Case Report and Review of the Literature.Semantic proximity Read ↗

Blood group phenotypes resulting from mutations in erythroid transcription factors.Semantic proximity Read ↗

Identification of a novel KLF1 gene promoter variation (c.-251C > G) in a Thai blood donor with In(Lu) phenotype.Semantic proximity Read ↗

Identification of new KLF1 and LU alleles during the resolution of Lutheran typing discrepancies.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.