Although hemophilia is uncommon in almost all Arab countries, it is the most prevalent form of the inherited bleeding syndromes (IBS) in the region. Hemophilia A accounts for the majority of Arab patients with IBS - 72% in Saudi Arabia according to the Center for Arab Genomic Studies, so is a disease that should be watched closely. Normally, when a person suffers an injury that results in bleeding, liquid blood solidifies (clots). The process involves as many as 20 different plasma proteins, or blood clotting factors. When any of these factors are missing or are deficient, the process doesn't occur normally. This is referred to as a bleeding disorder. Patients suffering from hemophilia do not bleed faster than others, but they bleed for a longer time than normal. The real danger they face is with uncontrolled internal bleeding that may be the result of an injury or may just start spontaneously. Bleeding in joints and muscles can cause stiffness, pain, severe joint damage, disability, and sometimes even death. Hemophilia was first diagnosed at the University of Zurich in 1828. Primarily being a genetic disorder, this disease earned the nickname the “Royal Disease”, as Queen Victoria of England (1837-1901) was a carrier of the hemophilia gene and consequently the disease was passed on to several members of royal family. There are two types of hemophilia Hemophilia A is deficiency of an essential clotting factor called factor VIII. It is also called Factor VIII Deficiency or Classic Hemophilia. It is the most common type of hemophilia occurring five times more often than Hemophilia B. Approximately one in 5000 males are born with Hemophilia A. The clotting factor VIII is normally produced in the liver. The faulty gene that causes Hemophilia A is found on the X chromosome (X-linked). Hemophilia B or Factor IX Deficiency is also X-linked. Quite often, there is no family history and the disorder is a new development, because of a new genetic mutation. It is also known as the Christmas disease, named after Stephen Christmas, a 20th-century British boy who was first diagnosed with it back in 1952. Hemophilia B is less common with one in 25,000 male births resulting in IT. Symptoms of hemophilia These include excessive bleeding and bruising, nose bleeds and abnormal menstrual bleeding. Hemophilia also exists at different stages. Levels of Hemophilia may be mild, moderate or severe. People with mild hemophilia usually have problems with bleeding only after serious injury, trauma, or surgery. People with moderate hemophilia - about 15% of the hemophilia population - tend to experience bleeding episodes after injuries. They may also experience occasional bleeding episodes without obvious cause. These are called “spontaneous bleeding episodes.” People with severe hemophilia - about 60% of the hemophilia population - have bleeding following an injury and may experience frequent spontaneous bleeding episodes, often in the joints and muscles. Common examples of physical trauma include bruises, joints, the nose, mouth and deep muscle bleeds. The five major sites for serious bleeds are the head, eye, the neck/throat, the abdominal/stomach and the kidney/bladder areas. Depending on the severity of the condition and areas and type, hemophilia patients may suffer from scarring of the joints (Joint Arthropathy), vision loss from bleeding in the eye, chronic anemia, neurologic or psychiatric problems or death from bleeding in critical areas like the brain. How does one get hemophilia? The gene that causes hemophilia is located on the X chromosome. When a genetic disorder appears, it means that one of the victim's genes may be carrying a disease-causing gene. Since males have only one X chromosome (XY), they are more likely to get infected. Females have two X chromosomes (XX) so they are mostly only the carrier. The disease is therefore carried by the women in the family. What is the treatment? This depends on the severity of the illness. In the case of mild hemophilia, basic first aid involving cleaning the cut and applying pressure and sufficient dressing is the usual approach. Additionally, a non-blood product synthetic drug, called Desmopressin Acetate (DDAVP) may be used for small bleeds. DDAVP is a man-made hormone used to treat people with mild to moderate hemophilia A, but can't be used to treat hemophilia B or severe hemophilia A. The case of deep cuts or internal bleeding requires more complex treatment, like the replacement of missing clotting factors, factors VIII and IX. Some of these factors are made from human blood products such as donated plasma. Others, called “Recombinant Factor” are made in a laboratory and do not use human blood. The scientific advisory, Council of the National Hemophilia Foundation, encourages the use of recombinant clotting factors because they are safer. A patient may need replacement therapy on a regular basis to prevent bleeding. This is called preventive or prophylactic therapy. Or, you may only need replacement therapy to stop bleeding when it occurs. Future therapy for hemophilia patients include Gene Therapy where better functioning Factor VIII and IX genes are inserted into the cells of patients to correct the defective gene and in this way, induce the blood to clot more effectively. Although gene therapy has not reached the point where it is an accepted form of therapy, clinical trials and research continue worldwide.
