ArticleDiagnostics (Basel, Switzerland)2022
Skewed X-Chromosome Inactivation and Parental Gonadal Mosaicism Are Implicated in X-Linked Recessive Female Hemophilia Patients.
Article in Diagnostics (Basel, Switzerland), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 7 citations in OpenAlex.
- New variant in PLP1 gene associated with X-linked spastic paraplegia type 2: First report of a family in ColombiaBiomedica : revista del Instituto Nacional de Salud · 2026Article
- Genotype-Specific Postural Control Deficits in Hemophilia A: Insights from Center of Pressure Analysis Beyond Radiographic Arthropathy.International journal of molecular sciences · 2026Article
- The Epigenetic Landscape of Hemophilia.Current molecular medicine · 2026Review
- Noninversion Variants in Sporadic Hemophilia A Originate Mostly from Females.International journal of molecular sciences · 2025Article
- Renal inflammatory myofibroblastic tumor coexisting with hemophilia A carrier: a case report and literature review.CEN case reports · 2024Review
- De Novo Noninversion Variants Implicated in Sporadic Hemophilia A: A Variant Origin and Timing Study.International journal of molecular sciences · 2024Article
- An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation.Frontiers in genetics · 2024Article
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundHemophilia A (HA) and B (HB) are X-linked recessive disorders that mainly affect males born from a mother carrier. Females are rarely affected but a number of mechanisms have been suggested in symptomatic females, such as skewed X-chromosome inactivation (XCI), chromosomal rearrangements, and hermaphrodites. Different methodologies are required to elucidate the underlying causes of such diseases in female patients.
methodsThree families with female hemophilia patients, including two HA and one HB, were enrolled for genetic analyses. Cytogenetics, molecular examinations on
resultsAll three female patients are demonstrated to be heterozygous for an
conclusionsIn addition to screening for coagulation function, different genetic analyses are mandatory to explore the nature of mechanisms responsible for the X-linked recessive disorders in female patients as shown in this study. Our results confirm that skewed XCI is responsible for hemophilia in heterozygous female patients. Likewise, our results implicate that parental gonadal mosaicism, followed by skewed XCI, contributes to hemophilia in "sporadic" female patients.
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