Hemophilia is a rare, inherited bleeding disorder where the body produces insufficient or defective blood-clotting proteins, known as clotting factors. Individuals with hemophilia experience prolonged bleeding after injuries, surgeries, or even spontaneous bleeding episodes, necessitating careful, lifelong management.
The Nature of Haemophilia
Hemophilia is a genetic disorder impacting the coagulation cascade. It stems from a deficiency or defect in specific clotting factors. The most common forms are Hemophilia A, characterized by a lack of functional Factor VIII, and Hemophilia B, involving insufficient Factor IX.
These forms of hemophilia are typically inherited in an X-linked recessive pattern. Males are more frequently affected since a single altered X chromosome can lead to the condition. Females usually need two altered copies to exhibit severe symptoms, but can be carriers and pass the gene to their children. About one-third of cases may arise from a spontaneous gene mutation with no family history.
The severity of hemophilia depends on the level of functional clotting factor present in the blood. Individuals with less than 1% factor activity are classified as having severe hemophilia, often experiencing spontaneous bleeding. Moderate hemophilia involves 1% to 5% factor activity, leading to bleeding after injuries. Mild hemophilia, with 5% to 40% factor activity, results in bleeding only after major injuries or surgery.
Identifying Haemophilia
Hemophilia is recognized by characteristic bleeding patterns. Common signs include easy and excessive bruising, prolonged bleeding from minor cuts, dental procedures, or after surgery. Individuals may also experience spontaneous nosebleeds or bleeding into the mouth and gums.
A significant symptom is internal bleeding, particularly into joints, a condition known as hemarthrosis, or into muscles. Joint bleeds can cause pain, swelling, and tightness, and if untreated, may lead to long-term joint damage and chronic pain. In infants, excessive bleeding after circumcision or unexplained irritability may also suggest the condition.
Diagnosis typically begins with a review of personal and family medical history. Blood tests confirm the diagnosis and determine the type and severity of hemophilia. Screening tests, such as activated partial thromboplastin time (aPTT) and prothrombin time (PT), assess overall clotting ability. Clotting factor assays measure the activity levels of Factor VIII and Factor IX. Genetic testing can also identify the specific gene mutation and confirm carrier status within families.
Approaches to Treatment
The primary treatment for hemophilia is factor replacement therapy, which involves replacing missing clotting factors. This is achieved by infusing concentrated clotting factors, derived from human plasma or produced recombinantly in a laboratory. These infusions can be administered on-demand, at the onset of a bleed, or prophylactically, through regular infusions to prevent bleeding. Prophylactic treatment is often the standard of care for severe hemophilia, significantly reducing bleeding rates and joint damage.
Beyond traditional factor replacement, newer non-factor therapies offer alternative approaches. Emicizumab, a bispecific antibody, mimics the function of Factor VIII and helps promote clotting, offering a subcutaneous administration option. Gene therapy is a developing area, aiming to introduce functional genes that allow the body to produce its own clotting factors for a long-term solution. While promising, these newer treatments are still being evaluated for their long-term effects.
Immediate management of a bleed involves factor replacement and supportive measures. The RICE method—Rest, Ice, Compression, and Elevation—can help control bleeding and reduce pain and swelling, although it is not a substitute for factor infusion. Comprehensive hemophilia treatment centers (HTCs) provide specialized, coordinated care with a team of healthcare professionals to manage all aspects of the condition.
Life with Haemophilia
Daily management of hemophilia involves consistent adherence to treatment, especially prophylactic infusions, to maintain adequate clotting factor levels and minimize bleeding risks. Regular monitoring by a healthcare team is important to adjust treatment and assess overall health. Individuals are encouraged to adopt a lifestyle that reduces injury risk, such as avoiding contact sports with high trauma risk.
Maintaining joint health is a significant aspect of living with hemophilia. Regular, low-impact exercise helps strengthen muscles around joints, offering protection against bleeds. Good dental hygiene is important to prevent gum disease and reduce bleeding during dental procedures.
Despite advancements in treatment, individuals with hemophilia can still face complications. Repeated bleeds into joints can lead to hemophilic arthropathy, characterized by chronic pain and limited mobility due to joint damage. Another complication is the development of inhibitors, antibodies that neutralize infused clotting factors, making treatment less effective. With modern treatments and access to comprehensive care, individuals with hemophilia can lead active and fulfilling lives, emphasizing patient education and strong support networks.