Coagulation and Hemophilia Treatment Centers - Blood Essay Example
Some people would ask , “What is hemophilia? ” - Coagulation and Hemophilia Treatment Centers introduction. Well first lets break down the word to get the exact term. Hemo-, in Latin terms means blood and –philia, tendency towards, so the literal translation is a tendency towards blood. But what hemophilia is exactly is a rare, hereditary blood disorder marked by a tendency toward excessive bleeding. The cause of this coagulation disorder is a result of a flaw in the x chromosome, that may also be a product of a unprompted gene mutation .
In each type of hemophilia, (type A,B,C) a vital coagulation protein is absent causing the afflicted individual with the disease to bleed for extended periods of time before clotting occurs. And depending on the severity of the hemophilia disorder within the individual, sporadic uncontrolled bleeding may occur without any provocation or after any invasive procedures or injury. Demographics show that hemophilia type A affects between 1 in 5,000 to 1 in 10,000 males on most populations. Hemophilia B occurs 1 in 40 to 50,000 and in the U. S. it is estimated to be 13. cases for every 100,000 males (10. 5 type A 2. 9 type B). When it comes to race and ethnicity, the frequency is 13. 2 cases in 100,000 amongst Caucasian males, 11. 0 among African Americans, and 11. 5 among Hispanic males. Hemophilia C occurs primarily among individuals of Jewish descent. About 70% of all people with hemophilia type A or B inherited disease, the other 30% have developed through spontaneous genetic mutation. Both factors VIII and IX are produced by a genetic defect of the X chromosome, so hemophilia A and B are both sex-linked diseases passed on from a female to male offspring.
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All humans have two chromosomes determining their gender: females have XX, males have XY. Because the trait is carried only on the X chromosome, it is called sex-linked. Because a female child always receives two X chromosomes, she will receive at least one normal X chromosome. So even if she receives one blemished X chromosome, she will still be able to produce an appropriate amount of factors VIII and IX to avoid the symptoms of hemophilia. A female who has one defective chromosome but does not suffer from the disease is a carrier.
She carries the flaw that causes hemophilia and can pass it on to her children. But if she has a son who receives her flawed X chromosome, he wont be able to make the right amount of factors VIII or IX, and he will suffer some degree of hemophilia. In rare cases, a hemophiliac father and a carrier mother can pass on the right combination of parental chromosomes to result in a hemophiliac female child. However, the vast majority of people with either hemophilia A or B are male. (Fig. & 2) About 30% of all people with hemophilia A or B are the first member of their family to ever have the disease. These individuals have had the incidence of a spontaneous mutation, meaning that in their early development, some random genetic accident affected their X chromosome, resulting in the defect that causes hemophilia A or B. Once a spontaneous genetic mutation takes place, children of the diseased person can inherit the newly generated, flawed chromosome. In the case of severe hemophilia, the first bleeding event usually occurs prior to 18 months of age.
In some babies, hemophilia is suspected immediately when a routine circumcision results in unusually heavy bleeding. Toddlers are at particular risk because they fall frequently and may bleed into the soft tissue of their arms and legs. These small bleeds result in bruising and noticeable lumps but do not usually require treatment. As a child becomes more active, bleeding may occur in the muscles, a much more painful and weakening situation. These muscle bleeds result in pain and pressure on the nerves in the area of the bleed.
Damage to nerves can cause numbness and decreased ability to use the injured extremity. There are various diagnostic tests for hemophilia under controlled conditions, to measure the length of time it takes to create certain parts of the final fibrin (a fibrous protein involved in the clotting of blood, and is non-globular) clot. The activated partial thromboplastin (a plasma protein present in tissues, platelets, and white blood cells necessary for the coagulation of blood ) time (APTT) is performed and will typically be prolonged while a prothrombin time (PT) will likely be normal.
Factor examinations, measurement techniques completed by the clinical labs, can govern the percentage of factors VIII and IX present compared to normal percentages. This information helps to confirm a diagnosis of hemophilia and identifies the type and severity of hemophilia about. Treatment for hemophilia vary, depending on the type and or situation. If you are pregnant and know that hemophilia runs in your family, talk to your primary care physician about hemophilia care. A diagnosis can be made at the time of birth.
Sometimes mothers do not know that they are carriers for hemophilia, and in that case you may not discover that your child has hemophilia until he/she has noticeable bruising or bleeding following an injury. Tests will determine which form of hemophilia is present and how severe it is. Children and adults with mild hemophilia may not need clotting factor replacement, except before medical or dental procedures or following an injury. For more severe hemophilia, clotting factor replacement can be injected.
Clotting factors are replaced by injecting (infusing) clotting factor replacement into the veins. The severity of hemophilia determines how clotting factors are replaced. Severe forms of hemophilia: Clotting factors may be replaced on a regularly scheduled basis (prophylaxis) to prevent bleeding, or on demand in response to symptoms of a bleeding episode or before an activity that may cause bleeding. A child as young as 10 can learn to self-administer the replacement.
Hemophilia treatment centers are available at most large medical centers and are an excellent resource to help you and your family get the best care for this condition. These centers have hematologists, nurses, social workers, physical therapists, and dentists who specialize in treating people with hemophilia. Before factor concentrates were developed, people with hemophilia had a ominously decreased life expectancy. The length before the 1960s for those with severe hemophilia was limited to 11 years. Currently, the mortality rate for males with hemophilia is 22 years with healthy males.
Currently, prompt and acceptable treatment can reduce the risks of life-threatening bleeding occurrences and the severity of long-term damage to joints, but joint deterioration remains a chronic complication of hemophilia. A lot of trials and studies are underway to see the possibility to use gene therapy to replace the flawed genes in hemophilia. To date, stable and sustained production of the deficient clotting factors has not been achieved in humans, but this is an area of active investigation that shows great promise for the future.