A hemophiliac is an individual with hemophilia, a rare, inherited disorder affecting the blood’s ability to clot. This condition arises because the body does not produce adequate amounts of proteins known as clotting factors. These factors work with platelets to form a clot, the body’s natural way of stopping bleeding. Without enough of a particular clotting factor, a person may bleed for a longer duration than is typical after an injury or surgery. The severity of the condition depends on how low the levels of clotting factors are in the blood.
The Genetic Basis of Hemophilia
Hemophilia is a genetic disorder that is most often inherited, linked to a gene located on the X chromosome. Because it is an X-linked recessive disorder, it predominantly affects males. Males have one X and one Y chromosome, so inheriting a single X chromosome with the altered gene is enough to cause the condition. Females, who have two X chromosomes, are typically carriers of the genetic trait; the functional gene on their second X chromosome usually provides enough clotting factor to prevent severe bleeding symptoms, though some carriers may experience mild symptoms.
The specific type of hemophilia is determined by which clotting factor is deficient. The most common form is Hemophilia A, which is caused by a mutation in the F8 gene, leading to a deficiency of clotting factor VIII. The second most common type is Hemophilia B, also known as Christmas disease, which results from a mutation in the F9 gene and a subsequent lack of clotting factor IX. While most cases are passed down through families, about one-third of cases arise from a spontaneous genetic mutation.
Signs and Symptoms
Individuals with mild hemophilia might only notice prolonged bleeding after a significant injury, surgery, or dental work. In more severe cases, however, bleeding can occur spontaneously without any obvious cause. This can manifest as frequent and difficult-to-stop nosebleeds, blood in the urine or stool, or unusually large and deep bruises from minor bumps.
A defining characteristic of moderate to severe hemophilia is internal bleeding, particularly into the joints, a condition known as hemarthrosis. This most often affects the knees, elbows, and ankles, causing pain, swelling, and a feeling of tightness in the joint. Repeated bleeding into a joint can cause permanent damage to the cartilage and bone, leading to chronic pain and limited mobility. Bleeding can also occur within large muscles, which can cause swelling and pain. A particularly serious complication is bleeding inside the brain, which can happen after even a minor head injury and requires immediate medical attention.
Diagnosis and Medical Management
Diagnosing hemophilia involves a series of blood tests designed to evaluate the blood’s clotting ability and measure the specific levels of clotting factors. These screening tests can identify delays in clotting time, and subsequent factor assays can pinpoint which factor is deficient and determine the severity of the condition.
The standard treatment for hemophilia is factor replacement therapy. This approach involves intravenously infusing a concentrated form of the missing clotting factor directly into the bloodstream. These concentrates are made from either donated human plasma or recombinant DNA technology. Treatment can be administered on-demand to stop an active bleed or on a regular, preventative schedule known as prophylaxis.
Prophylactic therapy, typically involving infusions two to three times a week, is the standard of care for severe hemophilia as it helps prevent bleeds, especially into joints, thereby reducing the risk of long-term damage. For individuals with mild Hemophilia A, a medication called desmopressin (DDAVP) may be used, which works by stimulating the release of the body’s own stored factor VIII.
Living with Hemophilia
Managing life with hemophilia involves a combination of medical treatment and careful lifestyle choices to prevent bleeding episodes. Individuals are advised to avoid certain over-the-counter medications that can interfere with blood clotting, such as aspirin and nonsteroidal anti-inflammatory drugs (NSAIDs).
Engaging in physical activity is encouraged for maintaining joint and muscle health, but it is important to choose safe activities. Sports with a high risk of collision or injury, such as football or hockey, are typically discouraged in favor of activities like swimming, walking, or cycling. Excellent dental hygiene is also a point of focus to prevent gum bleeding, which can be problematic. Wearing a medical alert bracelet or necklace is a simple but important precaution that can inform emergency responders of the condition in case of an accident.