ReviewHaemophilia : the official journal of the World Federation of Hemophilia2021
Genetic causes of haemophilia in women and girls.
Review in Haemophilia : the official journal of the World Federation of Hemophilia, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
40 citing papers in PubMed, 64 citations in OpenAlex.
- Hemophilia's Overlooked Female Face.Journal of clinical medicine · 2026Review
- Deleterious NKAP Mutations Are Associated with Musculoskeletal Abnormalities in Hemizygous Males and Skewed X Chromosome Inactivation in Heterozygous Females.International journal of molecular sciences · 2026Article
- Nine areas with outstanding challenges for hemophilia B research.Therapeutic advances in hematology · 2026Review
- The Epigenetic Landscape of Hemophilia.Current molecular medicine · 2026Review
- Cardiac surgery in an infant hemophilia B carrier with moderate hemophilia: a case report.Frontiers in cardiovascular medicine · 2026Article
- A Rare Case of Mild Hemophilia A in a Female with Mosaic Monosomy X and a De NovoInternational journal of molecular sciences · 2025Article
- Effectiveness of Octocog Alfa (BAY 81-8973) to Treat People With Haemophilia A Enrolled in the ATHNdataset, Including Under-Represented Subgroups.European journal of haematology · 2025Article
- Season-dependent low basal CD86 expression promotes immune cell activation upon treatment with plasma-derived factor Ⅷ products.Research and practice in thrombosis and haemostasis · 2025Article
- Gene therapy as an innovative approach to the treatment of hemophilia B-a review.Journal of applied genetics · 2025Review
- Effectiveness of Damoctocog Alfa Pegol to Treat Patients With Hemophilia A Enrolled in the ATHNdataset.European journal of haematology · 2025Article
- Nonsevere Hemophilia: The Need for a Renewed Focus and Improved Outcomes.Seminars in thrombosis and hemostasis · 2025Review
- Total Shoulder Arthroplasty in Patients With Hemophilia A: Greater Odds of Postoperative Bleeding and Thromboembolic Events but No Difference in 5-year Implant Survival.Clinical orthopaedics and related research · 2025Article
- Optical genome mapping identified deletions, inversions, and insertions in hemophilia.Blood advances · 2025Article
- Investigation of a hemophilia family with one female hemophilia A patient and 12 male hemophilia A patients.Annals of hematology · 2025Article
- Regional brain volumes and their relationship to neurocognitive outcomes in children with severe hemophilia A.Blood vessels, thrombosis & hemostasis · 2024Article
- Transforming Hemophilia A Care: Insights into New Therapeutic Options.Life (Basel, Switzerland) · 2024Review
- Genomic Landscape of Chromosome X Factor VIII: From Hemophilia A in Males to Risk Variants in Females.Genes · 2024Article
- Haemophilia testing of young girls in Canada: Describing the current recommendations for factor level and genetic testing and the experiences of Canadian parents.Haemophilia : the official journal of the World Federation of Hemophilia · 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
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Women and girls reported as "haemophilic females" may have complex genetic causes for their haemophilia phenotype. In addition, women and girls may have excessive bleeding requiring treatment simply because they are heterozygous for haemophilia alleles. While severe and moderate haemophilia are rare in females, 16% of patients with mild haemophilia A and almost one-quarter of those with mild haemophilia B seen in U.S. haemophilia treatment centres are women and girls. A phenotypic female with a low level of factor VIII or factor IX may be classified into one of the following categories of causality: homozygosity (two identical haemophilia alleles), compound heterozygosity (two different haemophilia alleles), hemizygosity (one haemophilia allele and no normal allele), heterozygosity (one haemophilia allele and one normal allele), genetic causes other than haemophilia and non-genetic causes. Studies required for classification may include coagulation parameters, F8 or F9 sequencing, F8 inversion testing, multiplex ligation-dependent probe amplification, karyotyping and X chromosome inactivation studies performed on the patient and parents. Women and girls who are homozygous, compound heterozygous or hemizygous clearly have haemophilia, as they do not have a normal allele. Heterozygous women and girls with factor levels below the haemostatic range also meet the definitions used for haemophilia treatment.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.