Hemophilia is a genetic disorder that prevents blood from clotting properly due to a deficiency in specific proteins called clotting factors. While this condition is historically associated with males, women who are carriers of the hemophilia gene can also experience significant symptoms, especially those related to routine bleeding events. These women, who may have lower-than-normal levels of factor VIII or factor IX, are often diagnosed with mild hemophilia rather than simply being labeled as “carriers.” The primary impact of this reduced clotting ability centers on the menstrual cycle, where natural clotting mechanisms are essential for controlling blood loss. Understanding how this disorder affects menstruation is the first step toward seeking appropriate diagnosis and effective management.
How Hemophilia Manifests in Menstruation
The most common manifestation of a bleeding disorder like hemophilia in women is Heavy Menstrual Bleeding, often referred to as menorrhagia. This condition is characterized by excessive blood loss that significantly interferes with a person’s physical, emotional, and social quality of life. For women with hemophilia, the lack of sufficient clotting factors means that the blood vessels lining the uterus cannot be sealed off efficiently once the menstrual shedding begins.
Practically, this excessive blood loss can present as needing to change sanitary protection hourly or more frequently for several hours in a row. Many women resort to using “double protection,” such as a tampon and a pad simultaneously, or waking up at night to change their products. The menstrual period often lasts longer than seven days, and the passage of large blood clots is a common occurrence.
Chronic and excessive blood loss over many cycles leads to a secondary health consequence: iron deficiency anemia. Iron is necessary for producing hemoglobin, the protein in red blood cells that transports oxygen throughout the body. When iron stores are continuously depleted, the body cannot make enough healthy red blood cells, resulting in anemia.
The symptoms of iron deficiency anemia include persistent fatigue, general weakness, and a pale or yellowish complexion. Other symptoms may involve shortness of breath, dizziness, and difficulty concentrating. These systemic effects are a direct result of the body’s tissues not receiving adequate oxygen, highlighting the need for accurate diagnosis and intervention for heavy menstrual bleeding.
Identifying the Cause: Diagnosis of Bleeding Disorders
The initial step in confirming a bleeding disorder as the root cause of heavy menstrual bleeding is a thorough review of the patient’s personal and family history of bleeding. Healthcare providers look for other signs, such as easy bruising, frequent or prolonged nosebleeds, and excessive bleeding following dental work or surgery. This comprehensive history helps to differentiate a bleeding disorder from other common causes of heavy periods, like hormonal imbalances or uterine fibroids.
To help patients and clinicians objectively quantify blood loss, a standardized screening tool called the Pictorial Blood Assessment Chart (PBAC) is often utilized. The PBAC is a visual scoring system where a patient records the number of pads or tampons used and the degree of staining, assigning a score to each item. A score above a certain threshold, often 100 or 150, suggests the menstrual blood loss exceeds the definition of heavy bleeding, which is typically over 80 milliliters per cycle.
A diagnosis requires specific laboratory tests to measure the blood’s clotting ability and the amount of clotting factors present. Screening tests include the Prothrombin Time (PT) and the Activated Partial Thromboplastin Time (aPTT), which measure the time it takes for blood to clot through different pathways. While the PT is often normal in hemophilia A or B, an isolated prolonged aPTT can indicate a clotting factor deficiency.
The definitive diagnosis relies on specific factor assays, which measure the activity levels of factors VIII and IX to confirm hemophilia A or B, respectively. Because von Willebrand disease (VWD) is another common inherited bleeding disorder that causes heavy menstrual bleeding, specialized tests are also typically performed. These VWD-specific tests include the von Willebrand Factor antigen test, which measures the amount of the protein, and the Ristocetin Cofactor Activity test, which measures how well the factor functions.
Treatment and Management of Menstrual Bleeding
Management for heavy menstrual bleeding in women with hemophilia or other bleeding disorders focuses on reducing blood loss and preventing or treating iron deficiency anemia. The treatment plan is often multidisciplinary and tailored to the individual’s specific factor deficiency and the severity of her symptoms. Several medical interventions are considered first-line therapy to effectively control menstrual bleeding.
Hormonal therapies are frequently prescribed because they work by thinning the endometrial lining of the uterus, which reduces the amount of tissue shed during menstruation. Combined hormonal contraceptives, such as birth control pills, can also increase the levels of certain clotting factors, offering a dual benefit. Another highly effective hormonal option is the levonorgestrel-releasing intrauterine system (LNG-IUS), which releases a progestin directly into the uterus, substantially reducing menstrual blood loss.
Antifibrinolytic agents, primarily tranexamic acid, represent a core component of medical management. These non-hormonal medications work by stabilizing the blood clots that naturally form during a period, preventing them from breaking down prematurely. Tranexamic acid is taken only during the days of heavy bleeding, typically for four to five days, and has been shown to reduce blood loss significantly.
For women with more severe factor deficiencies, or when other therapies are insufficient, factor replacement therapy may be necessary to manage menstruation. This treatment involves infusing the missing clotting factor, such as factor VIII or IX, directly into a vein to temporarily raise the circulating factor levels. For some women, this can be done on a regular schedule during their period to prevent excessive bleeding, providing a targeted approach to managing the disorder.