Hemophilia the Most Common Genetic Term Paper

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The viruses that cause AIDS (HIV) and hepatitis can be carried in clotting factors however there have been no documented cases of such transmission in about ten years. Prevention of viruses can be prevented by: careful screening of donors; testing of donated blood products; treating donated blood products with a detergent and heat to destroy viruses (Hemophilia 2006). Both preventive and as-needed therapy can be administered at home, thus resulting in quicker treatment, fewer doctor or emergency room visits, and less costs. Vein access devices can be surgically implanted to allow easier access to a vein however infections can result from such devices (Hemophilia 2006).

All patients with bleeding disorders may benefit at times from using aminocaproic acid, an oral antifibrinolytic medication that helps stabilize clots (Curry 2004). Aminocaproic acid is the only product available in the United States in oral form, however it is not user-friendly, with dosing every 6 hours around the clock for up to 14 days and only one tablet dose size available, thus a 55 pound child would need to take 5 large tablets every 6 hours or an unpleasant tasting liquid (Curry 2004). Side effects of aminocaproic acid include nausea and vomiting, and it should not be used with bleeding in the urinary tract in order to avoid intra-renal obstruction due to clots (Curry 2004). The oldest, easiest and least expensive treatment is RICE: Rest, Ice, Compression, and Elevation, which can be used alone to treat minor bumps and bruises or along with factor for more severe bleeding episodes (Curry 2004). Individuals with bleeding disorders do not bleed more than other people, they just bleed longer (Curry 2004). Acetaminophen is recommended for pain and fever, since people with bleeding disorders should avoid aspirin and ibuprofen due to those medications' effects on hemostasis (Curry 2004). If an anti-inflammatory medication must be used, then choline magnesium trisalicylate is recommended; the newer cox2 inhibitors are also reasonably safe and effective (Curry 2004). Herparin and warfarin therapy are also contraindicated (Curry 2004).

Counseling that promotes competence and hope concerning HIV/HCV management, identifies personal life goals, and increases social support outside of the family are important elements of good therapy (Taylor 2004). Due to advances in technology, adults and families with children with hemophilia can weigh safety issues against the benefits of new, largely synthetic, blood products (Taylor 2004). Social workers can assist clients in evaluating new information and developments, and this partnered approach to disease management is congruent with the increasing demand for mutual accountability (Taylor 2004). The shift to community care allows the social worker opportunities to enhance patient self-determination by working with self-help organizations in a consumer participatory model, and to help them develop their own self-help initiatives (Taylor 2004).

During the 1980's, the hemophilia community was hit hard when blood products carrying the AIDS virus caused the death of more than 179 young recipients under the age of 13 years (Schaefer 1999). Ryan White and Ricky Ray were two youths who contracted AIDS from their hemophilia treatments. In 1998, the Ricky Ray Law was signed into law which provides payment of $100,000 to individuals with hemophilia who contracted HIV through contaminated blood products (Schaefer 1999).

In response to the HIV virus transmission, researchers began working to develop a non-plasma derived clotting factor. When the DNA recombinant protein became available in 1992, the first DNA-cloned recombinant factor VIII became commercially available (Schaefer 1999).

Many hemophilia patients have survived infection with HIV and are now considered 'chronic,' which is a testament to ongoing collaborative clinical research (Schaefer 1999). Recombinant factor VIII and factor IX products are not derived from human plasma, and are ideally suited for patients who have never encountered human blood product, and for the immune deficient HIV-infected patients who wish to avoid further contact with the potential risks of human plasma-derived products (Schaefer 1999). Due to expense and scarcity, patients may also receive 'old-fashioned' non-recombinant products that are fractionated from human plasma, however although blood products are now treated to be free of HIV virus, they continue to carry some risks of hepatitis, Creutzfeldt-Jakob Disease, parvovirus, and other unknown viruses (Schaefer 1999).

Before the use of home-infusion therapy, children with hemophilia often experienced frequent emergency department visits and extended hospital stays, which resulted in numerous missed days of school and prolonged separation from their families (Noll 2003). Yet, despite advances in treatment, children with hemophilia continue to miss more school than their peers, which may put them at a disadvantage both academically and socially (Noll 2003). Moreover, even when they are in school, they are often not allowed to participate in certain activities, which may interfere with their development of social skills, self-esteem and friendships (Noll 2003).

A study published in the August 2003 issue of the Journal of Developmental and Behavioral Pediatrics by Robert B. Noll found that children with hemophilia seem to experience some difficulties with emotional well-being when compared with peers of the same gender, race, and age with a chronic illness (Noll 2003). Noll's study also found that children with sickle cell disease, cancer and juvenile rheumatoid arthritis did not have difficulties with emotional well being (Noll 2003). Noll suggest that the difference may be due to the threat of HIV for the children with hemophilia that makes them more vulnerable (Noll 2003). Another study examining the effects of HIV on children with hemophilia reported that "children who were HIV positive exhibited more difficulties in the area of adaptive, emotional, and behavioral functioning than children who were HIV negative" (Noll 2003).

According to the National Institutes of Health, hepatitis C virus is the most common chronic blood-borne infection in the United States, infecting approximately 2% of the U.S., many of whom are chronically infected and may not be aware of their infection because they are not clinically ill (Brooks 2003). Recipients of dotting factor concentrated prepared from plasma pools posed a high risk for HCV infection until procedures to inactivate viruses, including HCV, were introduced in 1985 (factor VIII) and 1987 (factor IX) (Brooks 2003). Mirella Vasquez. Brooks reported in the July 2003 issue of Nursing Forum that the highest prevalence of infection is found among those with large or repeated exposure to blood or blood-containing products. Individuals who were treated with products made before 1987 have a HCV infection prevalence of 87%, and an estimated 75% of those with hemophilia who are over 12 years of age have chronic HCV infections, with up to one third of these co-infected with HIV (Brooks 2003).

There is very little information available concerning HCV infections of partners of hemophilia patients infected with HCV (Brooks 2003). In 1998, the Centers for Disease Control established the Universal Data Collection to serve as a national blood safety monitoring system for people with bleeding disorders who receive treatment with these products (Brooks 2003). Maryland Pao reports in the August 2005 issue of the Journal of the American Academy of Child and Adolescent Psychiatry that the clinical presentation of HIV encephalopathy may vary with age of infection and mode of transmission (Pao 2005). Writes Pao, "In children and adolescents infected through blood transfusion, encephalopathy generally presents later and follows a more indolent course" (Pao 2005). While encephalopathy is uncommonly an AIDS-defining illness for hemophiliacs, in as many as 21% of vertically HIV-infected children, encephalopathy can present and contribute significant morbidity and mortality as an AIDS-defining illness even when the child is not severely immuno-compromised (Pao 2005).

Patients with hemophilia and asthma share many of the common characteristics and stressors resulting from living with a chronic illness, however biopsychosocial stressors have increased dramatically for hemophilia patients, due to the presence of high rates of human immunodeficiency virus infection caused by contamination of clotting factor products before efficient screening measures and viral inactivation procedures were employed (Burket 1993).

According to the National Hemophilia Foundation, in 1991, HIV-seropositive prevalence ranges from 69-9% in severe cases to 20.3% in mild cases of hemophilia A (Burket 1993).

In 1992, the National Hemophilia Foundation reported the number of confirmed acquired immunodeficiency syndrome (AIDS) cases in hemophilia patients was 2,044 as well as in 165 sexual partners and 17 perinatal cases (Burket 1993).

Studies of general psychosocial adjustment of the hemophilia population to the HIV crisis found that although a small subgroup appeared at risk for considerable psychological morbidities, the majority of patients and their families coped with low distress (Burket 1993). A 1990 study found increased rates of depression and anxiety in HIV-positive adults with hemophilia relative to HIV-negative hemophilia patients (Burket 1993). Burket reports that "susceptibility to mental stress was related to several psychosocial characteristics, including a personal or family psychiatric history, low social support, and recent life stresses" (Burket 1993).

According to Burket, children with hemophilia represent a distinct subgroup among pediatric HIV cases, because exposure to HIV was a direct result of compliance with medical treatment and children of all ages…[continue]

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