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• W4372291696 abstract "Rationale: Hemophilia A (HA) is an X-linked recessive bleeding disorder, which shows factor VIII (FVIII) deficiency caused by genetic variant in F8 gene. Patient concerns: Males with F8 variants are affected, whereas female carriers with a wide range of FVIII levels are usually asymptomatic, it is possible that different X-chromosome inactivation (XCI) may effect the FVIII activity. Diagnoses: We identified a novel variant F8 : c.6193T > G in a Chinese HA proband, it was inherited from the mother and grandmother with different FVIII levels. Interventions: We performed Androgen receptor gene (AR) assays and RT-PCR. Outcomes: AR assays revealed that the X chromosome with the F8 variant was severely skewed inactivated in the grandmother with higher FVIII levels, but not in the mother with lower FVIII levels. Further, RT-PCR of mRNA confirmed that only the wild allele of F8 was expressed in the grandmother, with lower expression in the wild allele of the mother. Lessons: Our findings suggest that F8 : c.6193T > G could be the cause of HA and that XCI affected the FVIII plasma levels in female carriers." @default.
• W4372291696 created "2023-05-07" @default.
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• W4372291696 date "2023-05-05" @default.
• W4372291696 modified "2023-10-14" @default.
• W4372291696 title "A novel F8 variant in a Chinese hemophilia A family and involvement of X-chromosome inactivation: A case report" @default.
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• W4372291696 doi "https://doi.org/10.1097/md.0000000000033665" @default.
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