ArticleAmerican journal of hematology2008
Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation.
Article in American journal of hematology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Article
- Hemophilia's Overlooked Female Face.Journal of clinical medicine · 2026Review
- Monochorionic diamniotic twin brothers with severe hemophilia A: a case report.Frontiers in pediatrics · 2026Article
- Transforming Hemophilia A Care: Insights into New Therapeutic Options.Life (Basel, Switzerland) · 2024Review
- An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation.Frontiers in genetics · 2024Article
- Insights into the Molecular Genetic of Hemophilia A and Hemophilia B: The Relevance of Genetic Testing in Routine Clinical Practice.Hamostaseologie · 2022Review
- Sex differences in number of X chromosomes and X-chromosome inactivation in females promote greater variability in hearing among males.Biology of sex differences · 2022Article
- Hemophilia A and C in a female: The first case report in literature.Annals of medicine and surgery (2012) · 2021Article
- Genetic causes of haemophilia in women and girls.Haemophilia : the official journal of the World Federation of Hemophilia · 2021Review
- Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.Human genetics · 2019Article
- Pervasive Inter-Individual Variation in Allele-Specific Expression in Monozygotic Twins.Frontiers in genetics · 2019Article
- Management of Thrombosis Risk in a Carrier of Hemophilia A with Low Factor VIII Levels with Atrial Fibrillation: A Clinical Case and Literature Review.Case reports in hematology · 2018Article
- Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Human genetics · 2013Review
- X chromosome inactivation in clinical practice.Human genetics · 2009Review
- Discordant haemophilia A in male siblings due to a de novo mutation on a familial missense mutant allele.Haemophilia : the official journal of the World Federation of Hemophilia · 2009Article
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
We describe monozygotic female twins discordant for hemophilia A, born to a carrier mother and normal father. Affected twin A presented at age 1 year with excessive bruising and factor VIII procoagulant activity (FVIII:C) of less than 1% of normal. Twin B is an asymptomatic carrier with FVIII:C level of 42%. Peripheral blood DNA was tested for X-chromosome inactivation (methylation) patterns of the X-linked human androgen receptor gene, comparing the twins' patterns to parental. Twin A showed nonrandom inactivation skewed toward the paternal X, whereas twin B showed random X-inactivation. This is the first reported case of discordance for hemophilia A between female monozygotic twins.
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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.