The Rare Scenarios of Females Inheriting Hemophilia

As an X-linked recessive trait, hemophilia occurs almost exclusively in males. However, there are circumstances where females can experience bleeding symptoms.

Symptomatic carriers

In some cases, female carriers of hemophilia can have low levels (<50%) of either factor VIII or factor IX and may experience bleeding symptoms. Female carriers who have bleeding symptoms are called symptomatic carriers and can exhibit the symptoms of mild hemophilia. 

Daughters of a Father with Hemophilia and a Carrier Mother

In rare cases, it is possible for a female to have a father with hemophilia and a mother who is a carrier, and thereby inherit an affected X chromosome from both parents. Such daughters would have hemophilia, which may be mild, moderate or severe. 

Turner Syndrome

Turner syndrome is a rare chromosomal disorder in which females carry only one X chromosome. If these females inherit the X chromosome that carries the hemophilia gene, they will have hemophilia.

Skewed X-inactivation

Also once referred to as lyonization, skewed x-inactivation occurs when the affected X with the hemophilia gene is more active than the unaffected X. When this occurs, females can have low factor levels.