How Hemophilia Affects Women

Hemophilia is the most well-known bleeding disorder, affecting between 30,000-33,000 males in the United States. Hemophilia is a genetic condition and while females are rarely diagnosed with hemophilia, they can carry the mutations in the genetic code that causes hemophilia. This can sometimes lead to bleeding symptoms.

What is hemophilia?

Hemophilia is a genetic disorder that affects blood clotting, causing excessive bleeding and bruising symptoms. Hemophilia is caused by changes in the genes for producing blood clotting proteins known as “factor VIII (8)” or “factor IX (9)”. For patients with hemophilia, their genes produce lower than normal levels of these factors.

How is hemophilia inherited?

The genes that cause hemophilia are located on the X chromosome. Because of this, hemophilia primarily affects males, since they only have one X chromosome. Females have two X chromosomes, which means they typically have one mutated copy and one normal copy of the gene. The normal copy tends to override the mutated copy, meaning that females with the mutated gene do not typically show signs of hemophilia, but can carry the gene and pass it along to their children.

A woman who is a carrier has a 25 percent chance of having a daughter who is a carrier, a 25 percent chance of having a son with hemophilia, and a 50 percent chance of having a child (boy or girl) who does not have the gene for hemophilia.

Females who carry the gene for hemophilia can sometimes have symptoms. This is especially true for those women who have lower than expected levels of factor VIII or IX. These women have historically been called “symptomatic carriers” and can have a range of symptoms. Today, however, we give these individuals a diagnosis of mild hemophilia and not carrier status alone. This is an important distinction because it signals to other less-informed providers that this patient may be more at risk for bleeding and require specialized care.

What are the symptoms of being a hemophilia carrier?

Women who are carriers of the hemophilia gene mutation can experience many health implications. To minimize the risks and ensure safe and healthy outcomes, these patients should seek specialized care from a healthcare provider with experience in managing bleeding disorders. Common symptoms experienced by hemophilia carriers include easy bruising, prolonged nosebleeds, bleeding with surgical or dental procedures, and heavy menstrual bleeding. Heavy or prolonged bleeding can lead to anemia, iron deficiency, and fatigue that may interfere with daily activities and quality of life.

Carriers of hemophilia may require treatment to manage their symptoms. Heavy and prolonged menstrual bleeding can be treated with medications, such as birth control pills or other hormonal methods. Alternatively, some women may require infusions of the missing clotting factor to minimize bleeding with periods. Importantly, females who carry the gene for hemophilia need to also know that this can have implications on a healthy pregnancy and delivery as well as postpartum care and recovery.

Effects of hemophilia on pregnancy

In hemophilia carriers, clotting factor levels may rise during pregnancy, but not always. Women who have the diagnosis of hemophilia (or are carriers of a moderate to severe mutation), require more frequent monitoring as they are considered high-risk for potential bleeding. These levels are still generally much lower compared to those of women who are not carriers, which can increase the risk of bleeding during delivery or if delivery is complicated. Other increased risks in pregnancy that are associated with carrying the hemophilia gene may include:

• Increased risk of miscarriage due to bleeding that can occur during pregnancy
• Increased risk of bleeding with epidural placement requiring factor replacement prior to procedure
• Risk of passing hemophilia to the baby, which may pose a serious health risk to the infant with traumatic or prolonged labor

The postpartum period can also be challenging for women who carry the hemophilia genes as they may be at risk for bleeding and delayed healing. Postpartum complications include:

• Postpartum hemorrhage, or significant bleeding after delivery, due to changes in clotting factors, vaginal or cesarean section, and episiotomy or other interventions during delivery
• Delayed healing of any perineal tears or surgical incisions from delivery due to ongoing bleeding
• Hesitancy to breastfeed due to potential risk of injury and bleeding to the nipples

For women who have a family history of hemophilia, there are several ways to understand their risks of being affected. They should have a plan for pregnancy, delivery and postpartum care regarding monitoring, treatment, and follow-up management to ensure the best possible outcomes for mom and baby.

How is hemophilia diagnosed?

Blood tests for the level of the clotting factors may identify someone at risk for having hemophilia, but for women, genetic testing may be necessary to determine whether they carry the gene. It is important to remember, though, that not all people with bleeding symptoms have a family history of a bleeding disorder, so anyone with significant bleeding symptoms should be evaluated by a hematologist with experience in diagnosing bleeding disorders.

At the Rhode Island Hemostasis and Thrombosis Center, our hematologists can evaluate patients as well as order and interpret additional testing for bleeding disorders. Genetic testing is often the only definitive way to identify carriers of hemophilia. If there is a known family history of hemophilia, we recommend testing a woman prior to pregnancy; however, testing can sometimes be expedited, particularly for pregnant moms expecting a male child.

The Rhode Island Hemostasis and Thrombosis Center is a multidisciplinary team here at Rhode Island Hospital and Hasbro Children’s Hospital that provides nationally recognized high-quality comprehensive care to patients and families affected by bleeding disorders like hemophilia. For more information visit our website or call 401-444-8250.