Hemophilia

Hemophilia

Hemophilia is the oldest know, lifelong bleeding disorder("Hemophilia"2004). It is named for two inherited diseases in which the blood does not clot normally. Several different plasma proteins must be present for blood to clot property. If one of the plasma proteins is missing, or present at low levels, blood clots very slowly("Hemophilia" The Marshall Cavendish). The two most common types of hemophilia are: Hemophilia A or FactorVIII(8) deficiency and Hemophilia B of FactorIX(9) deficiency("Hemophilia" 2002). People with Hemophilia A have low levels of one kind of blood clotting protein and people with Hemophilia B have low levels of another kind("Hemophilia" The new book).

Hemophilia primarily affects males, and is present from birth. It is estimated that 20,000 cases have been identified in the United States. In most cases, hemophilia is usually passed down from the mother to son ("hemophilia" and the new book). A women who is carrying the hemophilia is usually referred as a "carrier". For instance; If a women who is a carrier of the hemophilia gene has a daughter, that daughter has a 50% chance of being a carrier. If women who is a carrier of the hemophilia gene has a son, the son has a 50% chance of having hemophilia. A very daughter of a man with hemophilia will be a carrier (Obliogate carrier). If a man with hemophilia has a son, they will not be affected and will not have hemophilia. However, approximately 30% of those families affected by hemophilia have no previous family history of hemophilia and is considered a "spontaneous mutation" ("Hemophilia"2002).

There are degrees of severity to the amount of specific protein in the blood. Normal levels of the factor proteins measured in the lab range approximately 50%-150%. Severe Hemophiliacs have 1%-5% of the specific protein. Mild Hemophiliacs have >5%-49% of the specific protein. As expected, those with the severe hemophilia may have spontaneous bleeding as a well as bleeding with minor injuries and trauma. Those with moderate hemophilia will have bleeding with injuries or trauma but not likely to have spontaneous bleeding. Those with mild hemophilia may only experience bleeding after trauma or surgery ("Hemeophilia" 2002)

The most common sites for the person with hemophilia to bleed are the joins and muscles. The joints most commonly affected are the knees, elbows, and ankles. This kind of bleeding is very painful and may lead to joint deformity and arthritis. As the person with hemophilia experiences episodes, they are better to identify "a bleed" before there are any outward signs. For instance; As blood collects in the joint or muscle space, they may notice warmth, pain, and/or swelling to the area affected. For an infant or toddler the caretaker may notice some signs and symptoms suck as, swelling and warmth to an area of the body, blood in the urine or stool, unexplained irritability, or pain ("hemophilia"2002).

Most bleeding episodes in hemophilia are not considered "life-threatening". There are however, some areas of the body, or some witnessed events that should be treated as an emergency. It is important that people with hemophilia receive factor and seek medical attention immediately if they witness or suspect a bleed to any of the following areas: head, eye, neck, stomach, spine, or hip ("hemophilia" 2002).

The treatment for bleeding episodes includes the replacements of the missing protein or factor. Most patients who been diagnosed with hemophilia are given the particular factor into a vein. For example if you have hemophilia A, you would receive a infusion of a medication called Factor VIII. This would increase the FVIII activity in your body and allow