Everyone loves doing something new, fun and exciting. Most of us would like to venture on extreme sports or activities thinking that getting cuts and bruises are just the cool part of the whole experience. And yes, most of us will not make a big deal about it because it will just heal eventually and the enjoyment we get outweighs the aftermath. To normal people, yes, that’s what normally happens.
But to some people who are unfortunate enough to carry an inherited disorder that doesn’t allow wounds and bruises to heal for a very long time, they will never get the chance to experience these extreme activities because basically they must live their lives with extreme precautions.
So what is this inherited disease we are talking about? According to Brunner and Suddarth (Medical-Surgical Nursing p.913), it is termed as hemophilia.
Hemophilia has two types but both are inherited bleeding disorders. These are hemophilia A (three times more common), wherein factor VIII is either deficient or defective, and hemophilia B (also called Christmas disease), wherein there is a deficient or defective factor IX.
Both types of hemophilia are inherited as X-linked traits which mean that the female carrier (daughter of an affected father) has a 50 percent chance of transmitting the gene to each son or daughter; the daughter becomes the carrier while the son is born with hemophilia. It is technically possible for daughters to be affected with hemophilia, although it is very rare. The disease is recognized in early childhood, usually in the toddler age group. However, persons with mild hemophilia may not be diagnosed until they experience severe trauma such as getting an injury from doing extreme sports and activities or surgery. Hemophilia occurs in all ethnic groups.
According to Williams and Hopper (Understanding Medical Surgical Nursing, p. 385), bleeding occurs mostly as a result of injury but in severe cases, it occurs spontaneously. After an injury, the person with hemophilia forms a platelet plug (which differs from a clot) at the site of an injury as would normally be expected, but the clotting factor deficiency keeps the patient from forming a stable fibrin clot. Continued bleeding washes away the platelet plug that initially formed. Contrary to popular myths, people with hemophilia do not bleed faster, and are not at risk from small scratches.
Bleeding into the muscles and joints (hemarthrosis) is common. Severe and repeated episodes of joint hemorrhage cause joint deformities, especially in the elbows, knees and ankles, which decreases the patient’s range of motion and ability to walk.
In mild hemophilia, excessive bleeding is usually associated only with surgery or significant trauma. However, once a person with mild hemophilia begins to bleed, the bleeding can be just as serious as that of the patient with a more severe form.
The patient with moderate hemophilia has an occasional bout of spontaneous bleeding, but in severe hemophilia, spontaneous bleeding occurs more frequently. It would be possible for the patient to develop hemarthrosis or bleeding into joint spaces.
Researches showed that hemophilia is not curable. However, there are already treatment advancements that have improved outcomes and many patients have started to enjoy living with a normal life span. Treatment is basically aimed at preventing the crippling deformities and at increasing the life expectancy. Treatment involves stopping bleeding episodes by increasing the levels of the missing clotting factors in the blood. Hemophilia A is treated with factor VIII while hemophilia B is treated with factor IX. The newest treatment is factors made using recombinant DNA technology, without the use of any human blood products.
Since this disease is incurable, the best way that we can do is to prevent the bleeding from occurring. Use an electric razor rather than a shave to avoid having small cuts. Having proper dental hygiene and using proper dental tools such as soft-bristled toothbrush and alcohol-free mouthwash can be a preventive measure. For children undergoing immunization, it is better to give it subcutaneous rather than intramuscular. Toys should be soft and with round corners. Joining contact sports in school should be evaluated for the possible risks the child has. Always refer to the physician regarding the use of aspirins and other aspirin-containing products. There are a lot of other ways to prevent bleeding from occurring, just be cautious in whatever a patient does.