Hemophilia the Most Common Genetic Bleeding Disorder Term Paper

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The most common genetic bleeding disorder is von Willebrand Disease, which affects roughly 3% of the world's population including all genders and races, and which is determined by a gene on chromosome 12, although occasionally it occurs as a new mutation (Curry 2004). Other inherited bleeding disorders, such as platelet or fibrinogen dysfunctions are extremely rare, and most have autosomal recessive inheritance but can also arise from new mutations (Curry 2004). Children may have bleeding problems that are not inherited disorders, such as idiopathic thrombocytopenia purpura (ITP), which is typically a transient autoimmune platelet destruction process, and may occur secondarily due to bone marrow suppression from chemotherapy (Curry 2004). However, more famous, but less common are the hemophilias: hemophilia A and hemophilia B (Curry 2004).

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There are approximately 18,000 people with hemophilia in the United States, roughly 1:5,000 male live births (Curry 2004). Hemophilia may be mild, 5-49% factor activity, with bleeding episodes after trauma or surgery; moderate, 1-5% factor activity, with bleeding after stress or overuse injury to joints or muscles; or severe, less than 1% factor activity, with all of the above plus possible spontaneous bleeding episodes into joints or muscles (Curry 2004). Hemophilia is a chronic condition characterized by a deficiency of clotting factor, usually factor VIII, and is an X-linked genetic disease that affects males almost exclusively (Noll 2003). While external bleeding is easily controlled, internal bleeding, most commonly into the joints and muscles, can result in severe complications (Noll 2003). Although internal bleeding is frequently spontaneous, it can occur as the result of trauma or stress (Noll 2003). The immediate results of bleeding into the joints are severe pain, swelling, and interruption of activity, however long-term results can be chronic arthritis or permanent loss of function in the affected joint (Noll 2003). Bleeding that occurs in the central nervous system can lead to neural injury or death (Noll 2003).

TOPIC: Term Paper on Hemophilia the Most Common Genetic Bleeding Disorder Assignment

Hemophilia is due to either a low level of one of the clotting factors, or a clotting factor is completely missing, which essentially means that it takes a long time for the blood to clot after an accident or injury (Hemophilia 2006). The clotting process, also called blood coagulation, is the body's response to bleeding that keeps it from losing too much blood, which can be life threatening and/or cause damage to the internal organs (Hemophilia 2006). These clotting factors are proteins in the blood that work with platelets to help the blood to clot, thus when blood vessels are damaged, the clotting factors help the platelets adhere together to basically plug cuts and breaks at the injury site (Hemophilia 2006).

The two main types of hemophilia are: hemophilia A - clotting factor VIII is low or missing, and hemophilia B - clotting factor IX is low or missing. Hemophilia may also occur when antibodies to these clotting factors form and block their function (Hemophilia 2006).

Hemophilia A is also known as classic hemophilia and factor VIII deficiency; hemophilia B. is also known as Christmas disease and factor IX deficiency (Hemophilia 2006). Hemophilia is determined to be mild, moderate or severe by the amount of clotting factor in the blood; approximately 7 out of 10 of those with hemophilia A have the severe form (Hemophilia 2006).

While normal people have a factor VIII activity of 100%, those with severe hemophilia A have a factor VIII activity of less than 1% (Hemophilia 2006).

Hemophilia is an inherited disorder that is caused by a defect in the genes that determine how the body makes blood clotting factors VIII and IX, which are located on the X chromosomes that determine the sex of the baby (Hemophilia 2006). Chromosomes are paired: females have two X chromosomes and males have one X and one Y chromosome. If a female has a defective gene for factor VIII or factor IX on one of her X chromosomes, she is a 'carrier' and can pass the defective gene on to her children: there is a one in two chance her son will have hemophilia, and one in two chance that her daughter will be a carrier (Hemophilia 2006). A male who has hemophilia cannot pass the disorder to his sons however all of his daughters will be carriers. Although very rare, a female may be born with hemophilia if her father has hemophilia and her mother is a carrier (Hemophilia 2006). Moreover, some males with hemophilia are born to mothers who are not carriers, this happens when a random change or mutation occurs in the gene as it is passed to the baby (Hemophilia 2006).

The major signs and symptoms of hemophilia are bleeding and bruising. Internal bleeding is common in cases of severe hemophilia and if not treated promptly, can lead to damaged joints, muscles or other parts of the body (Hemophilia 2006). Children with very mild hemophilia may not have noticeable symptoms for years, and usually the first sign is heavy bleeding from an accident, surgery or a dental procedure. Children with mild to moderate hemophilia may not have any signs or symptoms at birth, while males with severe hemophilia may experience heavy bleeding after circumcision (Hemophilia 2006). Usually, the first signs in most children are: heavy bruising and bleeding from the gums when they cut their first teeth, bumps and bruises from frequent falls when they are learning to walk, and swelling and bruising from bleeding in the joints, soft tissue and muscles (Hemophilia 2006). In older children and adults, the most common symptoms are: bleeding in the joints; bleeding and bruising in the soft tissue and muscles; bleeding in the mouth from a cut, bite, or loss of a tooth; spontaneous nosebleeds; blood in the urine; and blood in the stool (Hemophilia 2006). Although bleeding can occur in any joint, it is most common in the knees, elbows, and ankles. Symptoms of joint bleeding include: tightness in the joint with no real pain; tightness and pain with no visible signs of bleeding; joint becomes swollen and hot to touch with pain during movement; swelling continues as bleeding continues with loss of joint movement; bleeding slows after several days when the joint is full of blood; and if not treated can lead to disabling arthritis in the joints (Hemophilia 2006). The symptoms of bleeding in the brain, which can occur after a simple bump on the head, include: long-lasting painful headaches; vomiting; behavioral changes; lethargy; sudden weakness of limbs; neck pain or stiffness; double vision; difficulty walking; and convulsions or seizures (Hemophilia 2006).

Blood tests are used to determine: how long it takes for the blood to clot; whether the blood has low levels of any of the clotting factors; whether one of the factors is missing; and what type of hemophilia is present and its severity (Hemophilia 2006). Infants with severe hemophilia are generally diagnosed during the first year of life, however individuals with milder forms may not be diagnosed until adulthood (Hemophilia 2006). While the bleeding problems are the same for both types of hemophilia, it is important to distinguish hemophilia A from hemophilia B. because the treatments are different (Hemophilia 2006).

The primary treatment for hemophilia is replacement therapy, in which concentrates of the clotting factor are infused or injected directly into the blood stream: factor VIII for hemophilia A and factor IX for hemophilia B, and can be used to prevent bleeding or stop bleeding on an as-needed basis (Hemophilia 2006). Although replacement therapy is usually not need for mild hemophilia, desmopressin (does not help in hemophilia B) is sometimes given to raise the body's levels of factor VIII, however because its effects diminish with chronic use, it is applied only in certain situations, such as prior to dental procedures (Hemophilia 2006). Moderate hemophilia is treated only when bleeding occurs, although treatment may also be given to prevent bleeding prior to participating in an activity. In cases of severe hemophilia, long-term or shorter term preventive therapy is needed to prevent bleeding that could cause permanent damage to the joints, muscles, or other parts of the body however some individuals receive treatment only when bleeding occurs (Hemophilia 2006). It is crucial to get treatment as soon as possible if bleeding occurs because delay can result in serious complications.

The clotting factor concentrates used in replacement therapy come from two sources: blood from human donors and lab produced clotting factors called recombinant factors. Clotting factor concentrate infusions must be given once daily or more frequently when treatment has begun because half of the activity of factor VIII is gone in 8-12 hours and half of the activity factory IX is gone in 12-24 hours (Hemophilia 2006). The amount of clotting factor given depends on: the type of hemophilia, the bleeding site and severity of the bleeding, body weight, and whether the individual has developed an antibody that neutralizes the activity of the clotting factor (Hemophilia 2006). Antibodies to clotting factor develop in about 20% of people with severe hemophilia A, and about 1% of those with hemophilia B.… [END OF PREVIEW] . . . READ MORE

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