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Hemophilia: A Bleeding Disorder
Nicole Norsworthy
NUR 211 Community Health
Mrs. O’Shea ; Mrs. Ortiz
November 21, 2018
Hemophilia: A Bleeding Disorder
Hemophilia is a bleeding disorder which causes ineffective blood clotting due to decreased or mutated clotting factors VIII or IX. Hemophilia is most often inherited and includes varying types and severity. This disease occurs more often in males and only occurs very rarely in females. A person with hemophilia should wear a medical identification bracelet and inform all of their doctors of the disease. Treatments for this disease are replacement therapy and pharmacologic therapy.

Hemophilia is inherited through a person’s parents. There is a mutation or change in a gene which prevents clotting factors from working properly. The gene is located on the X chromosome and more often than not, males are the ones who suffer from this disease. Females can inherit this gene but are often only carriers, because a female would have to inherit two affected X chromosomes in order to suffer from this disease (“Hemophilia”, 2018). Hemophilia can also be acquired, meaning it is developed during a person’s lifetime, but this is extremely rare. Acquired hemophilia occurs when the body develops antibodies which attack clotting factor VIII. This also means that using clotting factors as treatment for acquired hemophilia will be ineffective because the antibodies destroy the clotting factors (“Hemophilia”, 2012). The two main types of hemophilia are Type A and Type B. Type A is the most common type, seen in 8 out of 10 people with hemophilia, and occurs when there is a low level of clotting factor VIII or when there is an absence of that factor. Type B is less common and occurs when there are low levels of clotting factor IX in the body (“Hemophilia”, 2018).
Signs and Symptoms
Hemophilia has many signs and symptoms which include the inability to properly clot causing prolonged bleeding. Hemophilia can cause excessive bleeding both internally and externally. Some signs of external excessive bleeding are: frequent nose bleeds without cause, a large amount of bleeding from a cut, bleeding from a cut after it has stopped for a short period of time, and bleeding in the mouth. Signs of internal excessive bleeding are: blood in the urine, blood in the stool and large bruises. Another symptom of hemophilia is bleeding in the joints, which, at first, causes tightness of the joints but no pain or signs of bleeding. Then it progresses to swelling of the joints, joints being hot to the touch, and joints that are painful to bend. Bleeding can also occur in the brain which is very serious and can be caused by a simple bump to the head. Common signs of bleeding in the brain are: painful headaches, repeated vomiting, sleepiness, sudden weakness, and seizures (“Hemophilia”, n.d.). Other symptoms of hemophilia are: bleeding after circumcision, bleeding after vaccinations, a ruptured spleen, osteoarthritis and hematomas (“Hemophilia A”, 2015). Symptoms of acquired hematoma include abnormal bleeding into the skin, muscles and tissues and often begins during adulthood (“Hemophilia”, 2012).
Types and Diagnosis
Types of hemophilia can be mild, moderate or severe. With hemophilia A, 70% of people have the severe form. Hemophilia is categorized as mild, moderate or severe depending on the amount of the clotting factor that is present in the blood. For a patient with mild hemophilia they have 5-40% of the normal clotting factor. With moderate hemophilia, a patient has 1-5% of normal clotting factor; severe hemophilia patients have less than 1%. Patients with severe hemophilia are often diagnosed within the first year of life due to the severe bleeding problems. Many patients with less severe hemophilia may not be diagnosed until they are adults. To diagnose hemophilia the primary care provider will obtain personal and family medical histories, a physical exam and a few blood tests. First, the doctor will order a clotting time blood test that evaluates how long it takes for the patient’s blood to clot; if it is not within normal range, the doctor will order a factor assay. The factor assay is a clotting factor test and it determines the levels of each clotting factor in the blood, allowing the doctor to diagnose the type of hemophilia (“Hemophilia, n.d.).

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Replacement Therapy and Pharmacologic Treatments
The main treatment of hemophilia is replacement therapy. This is when a patient receives an infusion of the needed clotting factor. The replacement clotting factors can be from human blood or recombinant clotting factors. Preformed at home, replacement therapy usually only takes 15 minutes to infuse and it can be used to prevent bleeding when taken on a regular basis, which is called prophylactic therapy. Or it can be used to stop bleeding, which is called demand therapy. Some complications of replacement therapy are the formation of antibodies (which attack the clotting factor), developing a viral infection, plus damage of joints, muscles and other parts of the body. Antibodies that attack clotting factor prevent the patient from receiving or being able to use the clotting factor that was infused. The antibodies prevent the replacement therapy from working and develop in 20-30% of patients with severe hemophilia A. When antibodies are developed, a doctor may give the patient larger doses, or they will use different sources of the clotting factor. A viral infection does not develop as often as it did in the past, because of the current screening and testing of donated human blood before it is used. Damage of the joints and other parts of the body with replacement therapy occur due to the delay in receiving treatment for bleeding episodes (“Hemophilia”, n.d.).

The other type of treatment is pharmacological therapy, which includes Antifibrinolytic medications, Desmopressin, Antihemophilic Factor, Coagulation Factor VIIa, Hemlibra, and ReFacto. Antifibrinolytic medications are often used with replacement therapy and they prevent blood clots from being broken down. Desmopressin is used to treat mild hemophilia A, it stimulates the release of stored clotting factor VIII, increasing its level in the blood (“Hemophilia”, n.d.). Antihemophilic Factor is used to treat and prevent bleeding in patients with hemophilia A. Coagulation Factor VIIa is used to prevent bleeding during surgical or invasive procedures in patients with hemophilia A and B, it is also used to treat bleeding episodes in these patients. Hemlibra is a medication used to prevent and reduce the frequency of bleeding episodes in patients with hemophilia A; Similarly, ReFacto can be used to both control and prevent bleeding episodes and is used before surgery. Mild hemophilia usually doesn’t require replacement therapy. A person is often prescribed Desmopressin and other medications to raise the level of clotting factor VIII and manage this disease. With moderate hemophilia, a patient will receive replacement therapy when they have a bleeding episode and to prevent bleeding during certain activities. These patients also may be prescribed pharmacological therapy. Severe hemophilia is treated with replacement therapy and preventative therapy (“Hemophilia”, n.d.).
Hemophilia is a bleeding disorder that causes prolonged and spontaneous bleeding. With this disease, bleeding is difficult to stop because the body doesn’t produce enough of a clotting factor, preventing the blood from clotting. Hemophilia is diagnosed with multiple blood tests (which will determine the type and severity) and can be managed through replacement and/or pharmacological therapy. There are multiple Hemophilia Treatment Centers, which provide care for people with hemophilia, health education, along with support and resources.
Genetics Home Reference. (2012). Hemophilia. Retrieved from Centers for Disease Control and Prevention. (2018). Hemophilia. Retrieved from Genetic and Rare Diseases Information Center. (2015). Hemophilia a. Retrieved from
National Heart, Lung, and Blood Institute. (n.d.). Hemophilia. Retrieved from

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