Carrier Of The Hemophilia Gene example essay topic

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 Factor V (8) deficiency and Hemophilia B of Factor IX (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 (Obligate 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 ("Hemophilia" 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 V. This would increase the F V activity in your body and allow the clot to form and healing to begin.

If you have hemophilia B, you would receive and infusion of Factor IX ("hemophilia" 2002) Other medications may be prescribed for the control of bleeding. These may include a nasal spray for those with mild hemophilia; an oral medication for the treatment of mouth or nosebleeds; or tropical powders. For joint bleeds, it is advisable to follow as R.I.C.E. where R = Rest-rest the joint, I = Ice-apply ice to the joint, C = Compression-wrap the joint in an ace wrap, and E = elevate-Place the extremity in an elevated position to promote circulation of pooled blood. Other therapies may include: the treatment of pain with analgesics, or on occasion, narcotics. Also the use of supportive devices such as crutches, braces, and slings, and activities that create a diversion, such as music, videos, art, etc ("Hemophilia" 2002). Although treatment for hemophilia has become safer, therapeutic products are still not risk free.

Because hemophilia is to be caused by the detects in the genes for factor VII and factor IX, the challenge is to transfer normal genes into the patient so that they will produce the normal clotting protein. Much remains to be studied before treatment can be offered to patients, there has been however a number of studies done in animals such as mice and dogs in which a factor VII or IX gene has been inserted and produced th e proper blood product for periods that exceed one year. Major issues that remain to be resolved include the low level of production of the clotting factor, reduction of immune reactions that stop the reproduction after a period, and development of ways to insert the gene directly into th e body without manipulating cells outside the body ("Hemophilia"13 May 1996). The expense, danger of indwelling catheters, and inconvenience of the treatment regimen are all negative factors.

All of these issues will become less important, even irrelevant, if the disease can be cured. At the present time, there are sufficient indications that gene therapy will ultimately be this cure. The technology for gene therapy's not as simple as was first thought. Yet because of tis special characteristics, hemophilia will likely be among the first genetic diseases to be successfully treated ("Hemophilia" 13 May 1996). Citation " Blood clot in vessel".

Adam. nr d. 26 Feb. 2004.