Hemophilia Disease - Sign Symptoms Causes and Treatments
Definition of Hemophilia
Hemophilia is not one disease but rather one of a group of diseases that cause inherited bleeding abnormal bleeding or excessive and poor blood clotting. The term is most commonly used to refer to two specific conditions are known as hemophilia A and hemophilia B, which will be the main subjects of this article. Hemophilia A and B are distinguished by specific gene mutated (turned into broken) and encodes for clotting factors (proteins) are damaged in any disease. Rarely, hemophilia C is encountered, but its effect on clotting much less assertive than A or B.
Hemophilia A and B inherited the genetic patterns associated latent in X and therefore much more common in men. The pattern of inheritance means that a given gene on the X chromosome reveals itself only when there is no normal genes are present. For example, a son have only one X chromosome, so a boy with hemophilia have a defective gene on the X chromosome solo (and so is said to be hemizygous for hemophilia). Hemophilia is a genetic disease associated with X are most common.
Although it is far more rare, a girl can have hemophilia, but he would have to have a defective gene on both X chromosomes her or have hemophilia gene plus one copy of a lost or damaged from the second X chromosome must carry the gene- the normal gene. If the girls have one copy of the defective gene on one of her X chromosomes and a normal second X chromosome, he does not have hemophilia but is said to be heterozygous for hemophilia (carrier). Sons they have a 50% chance of passing the mutated gene X and so has a 50% chance inherit hemophilia from their carrier mothers.
Hemophilia A occurs in approximately 1 of every 5000 male births living. Hemoplilia A and B occur in all groups of tribes. Hemophilia A is approximately four times more common than B; B occurs in approximately 1 of the 20-34.000- birth of a living man.
Hemophilia has been called the royal disease because of Queen Victoria, Queen of England from 1837 to 1901, is a carrier (carrier). Daughters give the mutated gene in members of the royal family of Germany, Spain, and Russia. Alexandra, granddaughter of Queen Victoria, who became Tsaritsa of Russia in the early 20th century when she married Tsar Nicholas II, is a carrier. Their son, Tsarevich Alexei, had hemophilia.
Causes of Hemophilia
As mentioned above, hemophilia is caused by genetic mutations. Mutations involving genes that encode proteins that are important in blood clotting process. The symptoms of bleeding caused by impaired blood clotting.
The process involves a series of blood clotting mechanisms are complex, usually involving 13 different proteins that are classically termed I through XIII and written with roman figures. If the lining of blood vessels is damaged, platelets are recruited into the injured area to form the initial blockage. Platelets are activated it releases chemicals that initiate the clotting cascade, activates a series of 13 proteins known as clotting factors (clotting). Finally, fibrin is formed, the protein crossed with itself to form a mesh that forms a blood clot last. Proteins involved with hemophilia A is a factor VIII (factor 8) and with hemophilia B is a factor IX (factor 9).
Hemophilia A is caused by mutations in the gene for factor VIII, so there is a shortage of these clotting factors. Hemophilia B (also called Christmas disease) results from a deficiency of factor IX caused by mutations in genes simultaneously.
The condition is referred to as hemophilia C involves deficiencies of clotting factors XI. This condition is much rarer than hemophilia A and B and typically lead to mild symptoms. He is also not inherited in a way related to the X and affects people of both sexes.
Hemophilia A is more common than hemophilia B. Approximately 80% of people with hemophilia have hemophilia A. Hemophilia B occurs in approximately 1 of every 25.000 to 30.000 people. Subgroup of which with hemophilia B have a so-called Leyden phenotype, characterized by severe hemophilia in childhood improved in adolescence.
Signs and symptoms of Hemophilia
Hemophilia can vary in severity, depending on the type of specific mutations (genetic damage). The degree of symptoms depends on the levels of clotting factor that is affected. Severe disease is defined as the activity factor of less than 1%, the activity factor of 1% to 5% is a disease that is being, and activity factor greater than 5% is a mild disease. Widely depending on the severity of bleeding (the amount of activity factor) and is similar to hemophilia A and B.
With severe hemophilia (A or B), bleeding began at an early age and may occur spontaneously. Those with mild hemophilia may only bleed excessively in response to injury or trauma. Carriers (carriers) of female hemophilia have varying degrees of activity of factors, some may have levels close to normal and showed no bleeding tendencies whatever, while some may have less than 50% reduction predicted and may bleed more often than female non-carrier-women (not carriers).
In severe hemophilia, bleeding episodes usually begin within the first 2 years of life. Heavy bleeding after circumcision (circumcision) in men is sometimes the first sign of this condition. The symptoms may develop later in those with moderate or mild disease. Bleeding from hemophilia can occur anywhere in the body. Common places are for bleeding joints, muscles, and digestive system. Specific places and types of bleeding are discussed below.
* Hemarthrosis (bleeding into the joints) is characteristic of hemophilia. Knees, ankles and wrists are most commonly affected. Bleeding causes distension of the joint spaces, significant pain, and through time, can become deformed. Through time, the destruction of the joints occurs, and operation of joint-replacement surgery may be necessary.
* Bleeding Into Muscles-Muscles may occur with the formation of hematoma (compartment syndrome).
* Bleeding from mouth or nosebleeds may occur. Bleeding after dental procedures are common, and bleeding from the gums may occur in young children when the new teeth appear.
* Bleeding from the digestive system can lead to blood in the stool.
* System Of Urine Bleeding can lead to blood in the urine (hematuria).
* Intracranial hemorrhage (bleeding into the brain or skull) can lead to symptoms such as nausea, vomiting, and / or lethargy.
* Bleeding That Rises After Trauma Surgery Or is characteristic of hemophilia.
Diagnosing Hemophilia
The majority of patients with hemophilia have a known family history of this condition. However, about one-third dar cases occur in the absence of a known family history. Dar most cases without a family history is caused by a mutation arose spontaneously in the affected gene. Other cases may be caused by inherited genes that are affected by a long line of female carriers.
If there is no known family history of hemophilia, a series of blood tests can identify the parts or a protein factor which from damaged blood clotting mechanism if one had episodes of abnormal bleeding.
The number of platelets (particles important for blood clotting process) should be measured as well as two indices of blood clotting, prothrombin time (PT) and activated partial thromboplastin time (aPTT). Normal platelet count, normal PT and aPTT are prolonged is characteristic of hemophilia A and hemophilia B. Specific tests for blood clotting factors can then be done to measure the levels of factor VII or factor IX and confirm the diagnosis.
Genetic testing to identify and characterize the specific mutations responsible for hemophilia is also available in special laboratories.
Do Allows To Know If You Are Carriers of Hemophilia?
Because the men with a genetic mutation will have hemophilia, a man who does not have the condition can not be carriers (carriers) of disease. A woman who has a son with hemophilia who knows termed as an obligate carrier, and no testing is required to establish that he is a carrier (carrier) of hemophilia.
The women whose status was unknown carrier can be evaluated by testing for clotting factors or with methods to characterize mutations in DNA. DNA screening methods are the most trusted general.
Prenatal diagnosis is also possible to test DNA-based tests performed on samples obtained through amniocentesis or chorionic villus sampling. Most of the individuals seen and tested by consultants who specialize in diseases associated with genetic.
Treatments For Hemophilia
The mainstay of treatment is replacement of clotting factors. Clotting factor concentrates can be purified from human donor blood or manufactured in the laboratory using methods that do not use a blood donor. This type of therapy known as replacement therapy (replacement therapy). Clotting factor replacement therapy is done by infusion clotting factor concentrates in the vein, such as blood transfusion. This type of therapy can be done at home with proper instruction and practice.
Depending on the severity of the condition, replacement therapy may be implemented as a base if necessary (so-called demand therapy) or on a regular basis to prevent bleeding episodes (known as prophylactic therapy).
Oran who have mild cases of hemophilia A is sometimes treated with the drug desmopressin, also known as DDAVP. This drug stimulates the release of more of the clotting factors by the body. He slowly inserted through the intravenous route (IV) or sometimes in the form of nasal spray.
Pain relievers may be prescribed for the liberation of the symptoms, but pain relievers other than aspirin or drugs anti-inflammatory non-steroidal (such as naproxen, ibuprofen) should be used, because the types of these drugs further impede the ability of blood to clot. Acetaminophen (Tylenol, etc.) is often given for pain relief.
What are the complications of treatment
Inhibitors
The main complication of treatment is the development of so-called inhibitors (inhibitors) to clotting factors. Inhibitors (antibodies) produced because the body view factor concentrates used to treat patients to reduce or prevent bleeding, as foreign and activates an immune response in patients to destroy foreign elements (factor VIII or factor IX).
Inhibitors to factor VIII is the most common and occurs in approximately one third of those with severe hemophilia A and is approximately 1 of every 50 people with hemophilia A mild or moderate. They typically develop in childhood in those with severe hemophilia A and then life squad in cases of lighter. Inhibitors destroy both concentrates replacement factor VIII and factor VIII are present in any body. This is a serious complication of treatment for factor concentrates are no longer effective in treating the condition. The action of inhibitors destroy factor VIII concentrates showed varying degrees of severity among individuals and may even differ over time in the same individual.
At about two-thirds of the cases, inhibitors disappear by itself or with treatment, known as immune tolerance therapy or immune tolerance therapy (ITT) or immune tolerance induction (ITI). In cases of severe hemophilia A with the persistence of the inhibitors, concentrates of other factors, such as activated prothrombin complex concentrate or recombinant factor VIIa, is given to try to help control bleeding.
The development of inhibitors to factor IX is far less common and occurs in approximately 1% of those with hemophilia B. However, this can cause very serious allergic reaction when konsenrat-administered factor IX concentrates. Immune tolerance therapy to eliminate the inhibitors are less successful than with hemophilia A.
Infections
Infection blood-born infections, such as the HIV virus and hepatitis B and C, is a major complication of treatment for hemophilia during the 1980s. These infections are transmitted through factor concentrates and other blood products used to treat hemophilia. The use of donor blood bags are great for preparing concentrates of factors and the lack of specific tests for infectious agents both contributed to the contamination of blood products used to treat hemophilia. In 1985, approximately 90% of people with severe hemophilia were infected with the HIV virus, and approximately half of all people with hemophilia were HIV-positive. Now, screening practices and improved manufacturing techniques expenses including viruses and the development of recombinant factors have essentially eliminated the tragic complications of treatment.
Prevent Hemophilia
Hemophilia is a genetic disease (inherited) and can not be prevented. Genetic counseling, identification of carriers (carriers) through molecular genetic testing, and prenatal diagnosis is available to help individuals understand their risk of having a child with hemophilia.
Divination (prognosis) for Hemophilia
Prior to factor concentrates are developed, those with hemophilia have a reduced life expectancy significantly. The life expectancy before the 1960s for those with severe hemophilia is limited to 11 years. Right now, the death rate for men with hemophilia is twice that of healthy men. As mentioned earlier, the increase in HIV infections and hepatitis related with therapy during the 1980s led to a corresponding increase in mortality rates.
Today, the immediate and adequate treatment can greatly reduce the risks of bleeding episodes that threaten lives and severity of long-term damage to the joints, but the worsening of the joints remains a chronic complication of hemophilia.
Nursing-Care Possible For The Future of Hemophilia
Many experiments and studies on the way to examine the possibility of using gene therapy to replace defective genes in hemophilia. Today, the production of stable and continuous from the factors that reduced still not been achieved in humans, but this is an active area of investigation that holds great promise for the future.
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