Hemophilia A is a genetic, hereditary disorder in which the clotting ability of the blood is impaired and excessive and or prolonged bleeding episodes result. Hemophilia A (classic hemophilia) is due to the absence of Factor VIII. Hemophilia B is due to a deficiency in clotting Factor IX. These clotting factors are two of the many elements necessary for normal blood coagulation.
Hemophilia (A or B) is passed from mother to son on the X chromosome. Females are carriers of the trait. There is a 50% chance that not only will their sons acquire hemophilia from the defective gene, their daughters will also become carriers of the gene.
One third of persons born with hemophilia have no previous family history. It develops as the result of a new or spontaneous gene mutation.
The severity of hemophilia depends upon the level of Factor VIII or IX deficiency in the individual.
Prolonged bleeding from cuts, tooth extractions or surgery
Cuts and grazes usually cause few problems as gentle pressure on the wound is usually enough to stop bleeding at the site of a minor injury. Bleeding can however occur either spontaneously or as a result of minor injury, into the joints. If left untreated this causes a sense of warmth, severe pain, joint swelling and spasm of the associated muscles.
Those with severe hemophilia may bleed 30 or more times a year (primarily internally) with minor injuries or spontaneously. Internal bleeding may cause joint problems, muscle and organ traumas, or head traumas.
Those with moderate hemophilia may have occasional spontaneous bleeding episodes or episodes after severe injuries or major traumas or surgeries.
Those with mild hemophilia usually only have bleeding episodes after serious injury, trauma or surgery.
Source: Adapted from the National Hemophilia Foundation and the National Health Service – United Kingdom
Exams and Tests For Hemophilia
Testing will include laboratory testing of blood samples and clotting time, a thorough family history, and a record of the patient's bleeding history.
Hemophilia Diagnosis
This is made from the family history, the history of bleeding, and, from blood tests that demonstrate the lack of the normal clotting processes. The clotting time is the time taken for blood run into dry tubes to clot. Clotting normally takes four to seven minutes. Blood from a hemophiliac person takes longer to clot. Laboratory tests can also demonstrate the levels of the various clotting factors present in the blood. In hemophilia there is a shortage of either factor VIII or factor IX.
Diagnosis and testing can be done at a qualified Hemophilia Treatment center.
Source: National Health Service – United Kingdom
Hemophilia Treatment
Factor VIII is a protein substance, a globulin. The substance can be isolated from donated blood and given to hemophiliacs to control their bleeding tendency. Unfortunately, factor VIII is active only for a short period – it loses half its activity after only 12 hours – so repeated injections are necessary.
The severity of hemophilia varies with the level of natural factor VIII activity in the individual. In severe cases the levels are less than five per cent of normal, and they may be less than two per cent of normal. The level of clotting-factor activity determines the need for replacement therapy, and the dosage. The replacement factors are given by slow injection into a vein.
Injections may be given on a regular basis, this helps prevent bleeding and minimize joint damage, or only when the bleeding occurs. A fairly recent development involves treatment is with genetically engineered factor VIII, ‘recombinant’ clotting factor, rather than donated human factor VIII.
Source: National Institutes of Health
Managing Hemophilia
Some alternative or complementary approaches may help the patient cope or reduce some of the stress associated with living with a chronic illness. As with any therapy, patients should discuss the benefits and drawbacks with their doctors before beginning an alternative or new type of therapy. If the doctor feels the approach has value and will not be harmful, it can be incorporated into a patient's treatment plan. However, it is important not to neglect regular healthcare.
Source: National Institutes of Health
Self-Care For Hemophilia Patients
Participating in exercise and maintaining overall good health can help people with hemophilia reduce the number of bleeding episodes they may experience. Due to the nature of this condition, you should discuss with your clinician which physical activities and sports are most appropriate for your particular situation. Contact sports such as football, wrestling and hockey should be avoided, particularly for persons with severe hemophilia.
Empower yourself with information about hemophilia. Know how the condition affects you, where to obtain treatment and what to do in an emergency.
Source: Adapted from National Health Service – United Kingdom
Caring For Those With Hemophilia
Friends and family members can help a patient with hemophilia by learning about that condition and understanding how it affects the patient's life. Friends and family can provide emotional and physical assistance. Their support, as well as support from other people who have the same disease, can make it easier to cope.
Source: Adapted from National Institutes of Health