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July 11, 2026Haemophilia

Pathogenesis of Haemophilia A in a Chinese Family With F8‐Intron 22 Inversion and Skewed X‐Chromosome Inactivation

Yingli Ren Haihao Shen Beibei Sun Tingdong Zhou Qiang Zhou Li Zhou

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Key Points

To investigate the genetic basis and pathogenesis of Haemophilia A in a Chinese family.
Genetic analysis focused on F8 gene mutations including intron 22 inversion.
Examination of X-chromosome inactivation patterns in family members.
The family was identified with F8-intron 22 inversion leading to severe haemophilia.
Skewed X-chromosome inactivation was observed, influencing the expression of the F8 mutation.

Implication

Genetic analysis reveals the cause of Haemophilia A in a Chinese family, suggesting a role of X-chromosome inactivation.

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Cite This Study

Ren et al. (2026) studied this question.

synapsesocial.com/papers/6a55d0f45aafca87247f81a9 https://doi.org/10.1111/hae.70325

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Keep reading

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Identification of an F8 complex recombination in Chinese hemophilia a patient using long-read sequencing and optical genome mapping2025 · 2 citations
2A de novo int22h‐1/int22h‐2‐flanked Xq28 deletion‐associated preferential X‐inactivation in a female with severe hemophilia B2024
3Prevalence of F8 Intron 22 Inversion in Severe Haemophilia A: Molecular Insights From a Cohort of Punjab Province of PakistanCross-Sectional Study · 2026
4Comprehensive Genetic Analysis of Hemophilia A in a Chinese Cohort: Insights from Next-Generation and Long-Read SequencingOriginal Research · 2026
5Factor VIII Intron 22 Inversion Mutation in Samples of Iraqi Patients with Hemophilia A2024 · 5 citations