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Article

A replication study of novel fetal hemoglobin-associated genetic variants in sickle cell disease-only cohorts.

Human molecular genetics - 6 Apr 2025

Ilboudo Yann, Brosseau Nicolas, Lo Ken Sin, Belhaj Hicham, Moutereau Stéphane, Marshall Kwesi, Reid Marvin, Kutlar Abdullah, Ashley-Koch Allison E, Telen Marilyn J, Joly Philippe, Galactéros Frédéric, Bartolucci Pablo, Lettre Guillaume

Abstract excerpt

Sickle cell disease (SCD) is the most common monogenic disease in the world and is caused by mutations in the β-globin gene (HBB). Notably, SCD is characterized by extreme clinical heterogeneity. Inter-individual variation in fetal hemoglobin (HbF) levels strongly contributes to this patient-to-patient variability, with high HbF levels associated with decreased morbidity and mortality. Genetic association studies...

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Topics

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Share to Anemia, Sickle Cell
Share to beta-Globins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cohort Studies

Share to Fetal Hemoglobin

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Share to Genome-Wide Association Study

Share to Polymorphism, Single Nucleotide

Share to Repressor Proteins

Source

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Identifiers

PMID: 39886999
DOI: 10.1093/hmg/ddaf015
PMCID: PMC11973897

Genes

SCD
BACH2
HBB
KLF1
BCL11A
HBS1L
MYB
PFAS
ZBTB7A

Provenance

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