Haemophilia is a rare genetic disorder of the blood-clotting system which is a result of a change in the genes that was either inherited or occurred during development in the womb. Haemophilia is caused by a fault in one of the genes that decide on how the body makes blood clotting possible.
The bleeding occurs because part of the blood- called plasma has too little of a protein that helps blood clot. An individual may bleed impulsively or for longer than a healthy person after surgery or injury. Normally when a person is cut or is bleeding internally, his/her body pools blood cells together to form a clot to stop the bleeding and this process is called as Coagulation. When coagulation factors are absent or poor the blood does not clot properly and the bleeding continues.
There are two major kinds of Haemophilia, Haemophilia A & Haemophilia B. Although they are clinically identical, these two types are associated with unprompted bleeding into the muscles, joints and external or internal bleeding after injury or surgery. Symptoms vary depending on the severity of the factor, deficiency and the location of the bleeding as well as the nature of the injury. The different levels of Haemophilia are classified based on the amount of clotting factor present in the blood (Severe, moderate and mild).
Symptoms include - People with mild haemophilia may not have symptoms until an event occurs which wounds the tissue or skin, such as surgery and then results in prolonged bleeding.
Treatment for Haemophilia depends on the severity. Patients with Haemophilia A or B are treated with clotting factor replacement therapy.
Two approaches include:
• Giving treatment to stop prolonged bleeding when it occurs, common in the management of patients with mild haemophilia.
• Preventive treatment with the use of medication to prevent bleeding episodes, commonly used for patients with severe or moderate haemophilia.
There has been a tremendous development in the treatment of haemophilia and many patients can now lead healthy lives with careful management of their condition.