Skewed X-Chromosome Inactivation and Parental Gonadal Mosaicism Are Implicated in X-Linked Recessive Female Hemophilia Patients.

ABSTRACT:

Background

Hemophilia A (HA) and B (HB) are X-linked recessive disorders that mainly affect males born from a mother carrier. Females are rarely affected but a number of mechanisms have been suggested in symptomatic females, such as skewed X-chromosome inactivation (XCI), chromosomal rearrangements, and hermaphrodites. Different methodologies are required to elucidate the underlying causes of such diseases in female patients.

Methods

Three families with female hemophilia patients, including two HA and one HB, were enrolled for genetic analyses. Cytogenetics, molecular examinations on F8 and F9 genes, XCI assay, and linkage analysis were performed.

Results

All three female patients are demonstrated to be heterozygous for an F8, or F9 mutation: one

SUBMITTER: Shen MC 

PROVIDER: S-EPMC9600608 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature