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Constitutive and Inducible Systems for Genetic In Vivo Modification of Mouse Hepatocytes Using Hydrodynamic Tail Vein Injection

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Non-Inversion Variants in Sporadic Hemophilia A Rarely Recur.

Shih-Yao Lin¹, Ming Chen^2,3,4,5, Shun-Ping Chang²

¹AltruBio Inc., Taipei 115, Taiwan.

International Journal of Molecular Sciences

|May 13, 2026

Summary

Sporadic Hemophilia A (HA) cases caused by non-inversion variants (NIVs) have a very low recurrence risk within the same generation of affected families. This finding aids in genetic counseling for families with sporadic Factor VIII gene mutations.

Keywords:

ARMS-qPCR linkage analysis non-inversion variant (NIV)sporadic hemophilia A

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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

Area of Science:

Genetics
Hematology
Medical research

Background:

Hemophilia A (HA) is an X-linked disorder caused by Factor VIII (F8) gene mutations.
Sporadic HA cases often arise from de novo mutations, posing challenges for recurrence risk assessment.

Purpose of the Study:

To evaluate the recurrence risk of sporadic non-inversion variants (NIVs) in Hemophilia A within the same generation of affected families.
To provide data for improved genetic counseling regarding sporadic HA cases.

Main Methods:

Analysis of 24 pedigrees from Taiwanese hemophilia registries.
Utilized linkage analysis with intragenic and extragenic markers.
Employed amplification refractory mutation system-quantitative polymerase chain reaction (ARMS-qPCR).

Main Results:

Among 16 individuals inheriting the same X chromosome as the sporadic mutation carrier, none possessed the F8 variant.
Demonstrated a very low recurrence risk for sporadic HA-causing NIVs.

Conclusions:

Sporadic non-inversion variants in the F8 gene have a minimal risk of recurrence within the same generation.
These findings are crucial for accurate recurrence risk assessment and genetic counseling in Hemophilia A.