Haemophilia is a rare bleeding disorder or disease in which the blood doesn’t clot normally. Haemophilia disease is a group of hereditary genetic disorders that impair the body’s ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken. Haemophilia is not one disease but rather one of a group of inherited bleeding disorders that cause abnormal or exaggerated bleeding and poor blood clotting. If you have haemophilia disease, you may bleed for a longer time than others after an injury. With this disease you also may bleed inside your body (internally), especially in your knees, ankles, and elbows. This bleeding can damage your organs and tissues and may be life threatening.
Types of Haemophilia
The two main types of haemophilia are A and B. Haemophilia A and B are inherited in an X-linked recessive genetic pattern and are therefore much more common in males. Like most recessive sex-linked, X chromosome disorders, haemophilia is more likely to occur in males than females. This is because females have two X chromosomes while males have only one, so the defective gene is guaranteed to manifest in any male who carries it. Although it is much rarer, a girl can have haemophilia, but she would have to have the defective gene on both of her X chromosomes or have one haemophilia gene plus a lost or defective copy of the second X chromosome that should be carrying the normal genes. Haemophilia is rare, with only about 1 instance in every 10,000 births (or 1 in 5,000 male births) for haemophilia A and 1 in 50,000 births for haemophilia B.
Causes of Haemophilia
As mentioned above, haemophilia is caused by a genetic mutation. The mutations involve genes that code for proteins that are essential in the blood clotting process. The bleeding symptoms arise because blood clotting is impaired. Rarely, haemophilia can be acquired. “Acquired” means you aren’t born with the disorder, but you develop it during your lifetime. This can happen if your body forms antibodies (proteins) that attack the clotting factors in your bloodstream. The antibodies can prevent the clotting factors from working.
Signs and Symptoms of Haemophilia
Haemophilia can vary in its severity, depending upon the particular type of mutation. Characteristic symptoms vary with severity. In general symptoms are internal or external bleeding episodes. In severe haemophilia, bleeding episodes usually begin within the first 2 years of life. Heavy bleeding after circumcision in males is sometimes the first sign of the condition. Symptoms may develop later in those with moderate or mild disease. Patients with more severe haemophilia suffer more severe and more frequent bleeds, while patients with mild haemophilia usually suffer more minor symptoms except after surgery or serious trauma. Moderate haemophiliacs have variable symptoms which manifest along a spectrum between severe and mild forms. Those with mild haemophilia may only bleed excessively in response to injury or trauma. The bleeding of haemophilia can occur anywhere in the body. Common sites for bleeding are the joints, muscles, and gastrointestinal tract.
Diagnoses of Haemophilia
The majority of patients with haemophilia have a known family history of the condition. However, about one-third of cases occur in the absence of a known family history. Most of these cases without a family history arise due to a spontaneous mutation in the affected gene.
Treatments for Haemophilia
The mainstay of treatment is replacement of the blood clotting factors. Though there is no cure for haemophilia, it can be controlled with regular infusions of the deficient clotting factor. Clotting factor concentrates can be purified from human donor blood or made in the laboratory using methods that do not use donor blood. This type of therapy is known as replacement therapy.
Prevention of Haemophilia
Haemophilia is a genetic (inherited) disease and cannot be prevented. Genetic counselling, identification of carriers through molecular genetic testing, and prenatal diagnosis are available to help individuals understand their risk of having a child with haemophilia. Haemophilia is a lifelong disease, but with proper treatment and self-care, most people with haemophilia can maintain an active, productive lifestyle. It is recommended that people affected with haemophilia do specific exercises to strengthen the joints, particularly the elbows, knees, and ankles. Exercises include elements which increase flexibility, tone, and strength of muscles, increasing their ability to protect joints from damaging bleeds.