Related Experiment Video
Updated: Mar 20, 2026

Tail Vein Transection Bleeding Model in Fully Anesthetized Hemophilia A Mice
Published on: September 30, 2021
[Pathogenetic mechanism for a female patient with hemophilia A]
Jiadi Chen1, Yanfang Lin, Xiaolan Lin
1Fujian Institute of Hematology, Fujian Provincial Key Laboratory of Hematology, Fujian Medical University Union Hospital, Fuzhou, Fujian 350001, China. huanghuif@126.com.
Objective:
To explore the pathogenetic mechanism for a female patient affected with hemophilia A (HA).
Methods:
Potential genetic defect was detected with inverse shifting-polymerase chain reaction (IS-PCR). The pattern of X chromosome inactivation was determined with a human androgen receptor assay (HUMARA assay). G-banded karyotyping was carried out to exclude potential chromosome aberrations.
Results:
IS-PCR showed that the defect of FVIII gene was the distal type of intron 22 inversion. The HUMARA assay showed that the X chromosome inactivation was non-random, and that the mother's X chromosome activity was lower than that of the father's X chromosome which has carried the inverted FVIII gene. No abnormalities were found with G-banded chromosomes.
Conclusion:
The prevalence of female HA patient may be caused by non-random inactivation of X chromosomes.
Related Concept Videos
Extrinsic and Intrinsic Pathways of Hemostasis
The Extrinsic Pathway
The extrinsic pathway of coagulation is typically initiated by tissue damage that exposes blood to tissue factor (TF), a protein released by the damaged tissue cells outside the blood vessels—this interaction with TF triggers biochemical reactions involving specific clotting factors. The key player here is Factor VII, which...
Disorders of Hemostasis
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
Anticoagulant Drugs: Low-Molecular-Weight Heparins
Introduction to Hemostasis
The three phases of hemostasis involve many clotting factors present in plasma and several substances released by platelets and injured tissue cells. It is a fast, localized,...
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Regulation of Bacterial Virulence

