Hemophilia is defines as a group of diseases characterized by an abnormal tendency to bleed profusely from the slightest wound and/or hemorrhage. This inherited bleeding disorder is causes by a deficiency of particular blood proteins, called factors. Due to an insufficiency or absence of certain blood proteins, hemophiliacs blood clotting process is extremely slow. The inability to stop bleeding rapidly results in life-threatening incidents. hemophilia is diagnoses by blood clotting tests that reveal factor VII activity abnormally low. Not only have the complications associated with the disease itself proved to be life-threatening, but it's treatment methods as well.
In order for the body to survive continued blood loss from even the smallest injury, the circulatory system must be self healing. Hemeostasis is the best known process which rapidly stop bleeding in most cases, except for the most disastrous bleeding accidents. The process occurs through several sequential steps. First, a "plug" is formed and to stop minor bleeding, this formation takes place when an injury stimulates platelets to support the damaged blood vessels, and then one another. The protein which binds these platelets is the von Willebrand factor. As the unpigmented blood cells gather into a mass, they reduce in size which therefor decreased blood flow at the injury site. Once this process is completed, the mass of platelets and damaged tissue initiate clotting, or coagulation. Finally, a firmly supported blood clot is formed and the wounds edges are drawn together to form a scar.
Plasma synthesized proteins allow for the formation of a blood clot. These clotting factors each have a specific numeral and common name. The inability of platelets and tissue to coagulates results from either an absent or deficient blood clotting factor. The inherited coagulation disorders are uncommon conditions with an overall incident probability of no more than 10 or 20 per 100,000 of the population. The most common type of coagulation disorder is Hemophilia A, or commonly known as classical Hemophilia. Hemophilia A is observed in 80 percent of hemophilia patients and derives from a lack of blood factor VIII. Hemophilia B, known as the Christmas disease, is the result of factor IX deficiency. The severity of Hemophilia varies greatly amount individuals. Most commonly, severe hemophilia manifests itself during the first year of life. The central nervous system, the retropharyngeal area and the retroparatoneal area are most susceptible to hazardous bleeding. Hospital observation and therapy is required in cases of bleeding in these areas. Weight-bearing joints such as ankles and knees are susceptible to spontaneous hemorrhaging. Urinary bleeding and the appearance of pseudotumors are also common.
Hemophilia inheritance os controlled by a recessive sex-linked factor carried by the mother on the x chromosome. Of the children of a normal male and a female carrier, half the boys will be hemophiliacs and half the girls will be carriers; of the children of a hemophiliac male and a normal female, all of the girls will be carriers and all of the boys will be normal.
The most famous case of hemophilia in the history may have been a cause of the Bolshevik revolution. How shocking then the possibility that the tainted blood that helped to change history may have been illegitimate. In recent news, England's royal tree has been questioned. New studies charge the Queen Victoria, the mother of modern European royalty and the grandmother Alexandra, the last Czaress of Russia, was illegitimate. A claim by two respected academics suggests that the power should have passed through the Duke of Cumberland, if in fact she was the product of an illicit liaison. This ultimately suggests that Elizabeth II should not be on the throne. This answer to this mystery lies within the DNA of the royal family. Co-authors pf "Queen Victoria's gene" question whether the interlocking European ruling families' history of hemophilia began with Victoria. It has been proven that one of Queen Victoria's sons, and later descendants, had hemophilia. Victoria must have carried the gene because her husband, Albert, was not a hemophiliac. Previous genealogical studies also prove that Victoria's forerunners could not have transmitted the disease, thus leaving only two scenarios. There is a chance, a one-in-50,000 chance, that she became a carrier of hemophilia through a spontaneous mutation. This unlikely possibility tends to propose that Victoria is not the daughter of the Duke of Kent, but rather the child of an unknown hemophiliac lover. The truth of this mystery can only be solved through DNA testing of Victoria's tissue and that of a paternal ancestor.
To keep up with natural blood loss, the normal body is continually producing blood clotting factors. Hemophiliacs, however, can not produce blood clotting factors due to their insufficiency or absence of certain blood proteins (factors), which lead to large amounts of blood loss. The symptoms which hemophiliacs experience can be subdued by the administration of the deficient clotting factor by way of the veins. The method used depends on the specific factor deficiency and the magnitude on the bleeding episode, the age and size of the patient, convenience, accessibility, cost of product, and method and place if delivery of care.
There are many substances that can replace missing clotting factors. Some sources contain all the clotting factors while others contain only one. A substance which contains all the clotting factors is fresh frozen plasma. Plasma requires a large volume for treatment because of its relatively low concentration level. Therefor, it can be used only when small amounts of clotting factor must be delivered. Plasma is used only when there is factor V, XI, and XII deficiencies. The administration of fresh frozen plasma does present many advantages, yet there are problems. unlike other substances, plasma is commonly harvested from single donor units to minimize the risk of infection by the hepatitis virus or human immunodeficiency virus (HIV), thus eliminating the risk involved in using pooled concentrates from many donors. The problems which surround the administration of plasma deal with its standardization. The Food and Drug Administration does not require standardization of the substance which therefor results in inaccurate dosage calculations and the risk of viral contamination.
Another substance which aids in the replacement of missing clotting factors is a drug called synthetic desmopressin actate (DDAVP). This drug is safe and commonly used for treatment after dental extractions and wounds.
Hemophiliacs who suffer from hemophilia A develop factor VIII antibodies. These inhibitors prevent the use of common treatment methods. Newer therapeutic approaches include the use of prothrombin complex concentrates for patients with low amounts of antibodies and for high responders, a method used to terminate the inhibitor in their system is performed. Drugs used in these hemophilia treatments include cyclophosamide, vincristine, and corticosteroids.
The development of chronic illness, infection with HIV, immunology diseases, liver and renal diseases, joint disorders and cardiovascular diseases may result from hemophilia treatments. Vaccinations and the use of monoclonal replacement factors are currently the only solutions to prevent treatment contaminations.
In the past years, an AIDS scandal has rattled Japan. During the mid-1980's, blood products tainted with the HIV virus were sold by Japanese hospitals to hemophiliacs. Before heat-treated blood products became available in Japan, over 2,000 hemophiliacs and their loved ones became infected with the deadly virus. The most startling aspect of this tragedy is that even after the threat of AIDS was proven, the Japanese drug and hospital companies continued to sell contaminated blood to hemophiliacs. According to Edith Hill, author of "Anatomy of a Tragedy", this life-threatening practice was allowed as part of a "policy to protect domestic companies from foreign competition".
Although hemophiliacs are instructed to avoid physical activities such as judo and football, they still may participate in such activities as swimming and walking. Through the development of advanced treatments and counseling, hemophiliacs are now able to live fulfilling, healthy lives.
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