ArticleEuropean journal of human genetics : EJHG2021
X Chromosome inactivation: a modifier of factor VIII and IX plasma levels and bleeding phenotype in Haemophilia carriers.
Article in European journal of human genetics : EJHG, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis.International journal of molecular sciences · 2021Pooled it
- From inactivation to intervention: X chromosome silencing in disease pathogenesis and emerging therapeutic strategies.Genes & diseases · 2026Review
- Focus on Women with Hemophilia and Carriers: How to Address All the Existing Gaps in Diagnosis and Care.Journal of clinical medicine · 2026Review
- Integrative modeling to improve bleeding risk prediction in adult female hemophilia A carriers.Journal of thrombosis and haemostasis : JTH · 2026Observational
- A Rare Case of Mild Hemophilia A in a Female with Mosaic Monosomy X and a De NovoInternational journal of molecular sciences · 2025Article
- Advancing care for women and girls with haemophilia: evidence from a comprehensive longitudinal analysis.Research and practice in thrombosis and haemostasis · 2025Article
- Article
- Nonsevere Hemophilia: The Need for a Renewed Focus and Improved Outcomes.Seminars in thrombosis and hemostasis · 2025Review
- Genomic Landscape of Chromosome X Factor VIII: From Hemophilia A in Males to Risk Variants in Females.Genes · 2024Article
- Proactive systematic hemophilia carrier screening: a step toward gender equity in hemophilia care.Blood advances · 2024Observational
- Hemophilia and Other Congenital Coagulopathies in Women.Journal of hematology · 2024Review
- Exploring nonreplacement therapies' impact on hemophilia and other rare bleeding disorders.Research and practice in thrombosis and haemostasis · 2024Article
- In vivo LNP-CRISPR Approaches for the Treatment of Hemophilia.Molecular diagnosis & therapy · 2024Review
- Clinical Analysis and Mental Health Survey of Hemophilia Carriers: a Cross-sectional Study.Current medical science · 2024Article
- Gender equity in hemophilia: need for healthcare, familial, and societal advocacy.Frontiers in medicine · 2024Review
- Emicizumab use in females with moderate or mild hemophilia A without factor VIII inhibitors who warrant prophylaxis.Research and practice in thrombosis and haemostasis · 2023Article
- A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing.Scientific reports · 2023Article
- X-chromosomal inactivation patterns in women with Fabry disease.Molecular genetics & genomic medicine · 2022Article
- Molecular Research in Medical Genetics.International journal of molecular sciences · 2022Article
- Gene-Based Methods for Estimating the Degree of the Skewness of X Chromosome Inactivation.Genes · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Haemophilia A and B are X-linked hemorrhagic disorders caused by gene variants in the F8 and F9 genes. Due to recessive inheritance, males are affected, while female carriers are usually asymptomatic with a wide range of factor VIII (FVIII) or IX (FIX) levels. Bleeding tendency in female carriers is extremely variable and may be associated with low clotting factor levels. This could be explained by F8 or F9 genetic variations, numerical or structural X chromosomal anomalies, or epigenetic variations such as irregular X chromosome inactivation (XCI). The aim of the study was to determine whether low FVIII or FIX coagulant activity in haemophilia carriers could be related to XCI and bleeding symptoms. HUMARA assay was performed on 73 symptomatic carriers with low clotting activity ≤50 IU/dL. Bleeding Assessment Tool (BAT) from the International Society on Thrombosis and Haemostasis (ISTH) was used to describe symptoms in the cohort of carriers. In 97% of haemophilia carriers, a specific gene variant in heterozygous state was found, which alone could not justify their low FVIII or FIX levels (≤50 IU/dL). A statistical association between XCI pattern and FVIII and FIX levels was observed. Moreover, female carriers with low coagulant activity (≤20 IU/dL) and high degree of XCI ( ≥ 80:20) had a higher ISTH-BAT score than the carriers with the opposite conditions (>20 IU/dL and <80:20). In our cohort of haemophilia carriers, XCI was significantly skewed, which may contribute to the low expression of clotting factor levels and bleeding symptoms.
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