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

ABSTRACT:

Objectives

Hemophilia 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, investigating the mechanisms of her condition and the genetic basis within her family.

Methods

We conducted coagulation tests and bleeding assessments to evaluate her bleeding phenotype. Molecular genetic examinations, karyotype analysis, X-chromosome inactivation testing, and targeted bioinformatic analysis were used to identify potential genetic etiologies.

Results

The proband exhibited a severe bleeding phenotype and was found to be a heterozygous carrier of an intron 22 inversi

SUBMITTER: Tan X 

PROVIDER: S-EPMC11743268 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature