An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation

An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation

ObjectivesHemophilia A (HA) is an X-linked recessive inherited bleeding disorder that typically affects men. Women are usually asymptomatic carriers, and rarely presenting with severe or moderately severe phenotype. This study aims to describe a case of a 17-year-old girl with moderate HA, investiga...

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Bibliographic Details
Main Authors: Xiaoyan Tan, Yi Yang, Xia Wu, Jing Zhu, Teng Wang, Huihui Jiang, Shu Chen, Shifeng Lou
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Genetics
Subjects:
hemophilia a
females
carriers
x-chromosome inactivation
gene mutations
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1500167/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2024.1500167/full

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