Hemophilia is a disease in the blood
Hemophilia is due to lack of sufficient or sufficient protein needed for blood transfusions. The two main types are hemophilia A (factor VIII deficiency) and hemophilia B (deficiency factor IX). ( hemophilia inheritance , definition)
* Hemophilia A occurs in 1 of every 5,000 births. Hemophilia A is approximately four times more common than hemophilia B. The number of people with hemophilia in the United States is about 20,000 people.
* The spread of hemophilia in the world is unknown, but it is estimated to be more than 400,000 people. Almost 75% of people with hemophilia in the world still get ill treatment or can not get treatment.
* There is currently no hemophilia treatment. There are the most effective treatments in the United States, but it may require long-term life-long treatment that is derived from human plasma or recombinant biotechnology.
Almost 90% Americans with severe hemophilia were infected with AIDS in the 1980s, while donations in blood and plasma in the United States are not available enough for HIV.
Improvement in donor surveys and current anti-virus measures in the cord rope trading process have been very secure. Since 1998, the CDC Blood Safety System has not experienced HIV or hepatitis-related infections associated with the causes of mixing among hemophilia patients.
What is hemophilia?
Himofilia is not one disease but a type of inherited blood disorders that result in abnormal bleeding or too many clotting and weak blood. The term is known as two special conditions known as A. hemophilia and hemophilia B, which will be the main theme of this article. Hypertension A and B are characterized by a special gene that has been mutated (changed into negative) and the symptoms of proteins (protein) in each disease. Hemophilia C (deficiency in XI factor) is rarely available, but its effect on mixing is much less than A or B.
Hemophilia A and B are owned in a X-related link and, therefore, are more common for men. This genetic heritage means that some genes are described only in X chromosome when no natural genes exist. For example, the baby has only X chromosome, so that the baby with hemophilia and the negative gene on one X is one (it is said hemofilia is hemofilia). Hemophilia is a common illness that is associated with X.
Although rare, you may have a girl hemofilia, but they should have a negative gene in both chromosome X or have a gene genome in hemofilia, with a poor copy or defect of chromosome X II, which should be a normal gene. If the kid contains a copy of the negative gene in one of the X chromosomes and the other X common chromosomes are hemofilia, but it is referred to as heterozigoti (carrier). Their children have 50 chance of transgenic X genes, so they have 50 chance of inheriting hemophilia from the infected mother.
Hemophilia A occurs in about 1,000 in the 5,000 births of men living. Hemophilia A and B occur in all ethnic groups. Hemophilia A is approximately four times higher than B. B. It is about 1 out of 20 births for men living.
Hemophilia has been called a real illness because Queen Victoria, the UK Queen from 1837 to 1901, was a carrier. Her daughters passed through foreign genes to members of the royal family in Germany, Spain and Russia. Alexandra, the granddaughter of Queen Victoria, who began Tsarina of Russia at the beginning of the 20th century when she struck down Tsar Nicholas II, was a businessman. His son, Alexei Tsarevich, suffered from hemophilia.
What causes blood in the urine?
The causes of hemolytic hemorrhage and microscopic are similar and may be the result of bleeding anywhere in the urinary tract. One can easily distinguish between kidney blood, ureters (existing carriers from kidney to bladder), urinary bladder or urethra. Any blood grade in the urine should be thoroughly examined by a physician, even if it is solved directly.
What causes hemophilia?
As mentioned above, hemophilia is caused by a genetic mutation. The mutations involve genes that code for proteins that are essential in the blood clotting process. The bleeding symptoms arise because blood clotting is impaired.
The blood clotting process involves a series of complex mechanisms involving 13 different proteins, classically called factors I to XIII and written with Roman numerals. If the lining of the blood vessels is damaged, platelets are recruited in the affected area to form an initial plug. These published blood plates release chemicals that begin the coagulation sequence, activating a series of 13 proteins known as coagulation factors. Eventually, the forms of fibrin, a protein that intertwines itself to form a network that forms the final blood clot. The protein involved with hemophilia A is factor VIII (factor 8) and hemophilia B is factor IX (factor 9).
Picture of the blood clotting process
Hemophilia A is caused by a mutation in the gene for factor VIII, so there is deficiency of this clotting factor. Hemophilia B (also called Christmas disease) results from a deficiency of factor IX due to a mutation in the corresponding gene.
The condition known as Hemophilia C involves a deficiency of atherosclerosis factor XI. This condition is much rarer than hemophilia A and B and usually produces mild symptoms. It does not inherit in a way that is related to X and affects people of both sexes.
Hemophilia A is more common than hemophilia B. About 80% of people with hemophilia have hemophilia A. Hemophilia B occurs in about 1 out of every 20,000 to 30,000 people. A subgroup of those with hemophilia B has the so-called Leyden phenotype, which is characterized by a severe hemophilia in childhood that improves at puberty.
What are the signs and symptoms of hemophilia?
Hemophilia can vary in its severity, depending upon the particular type of mutation (genetic defect). The degree of symptoms depends upon the levels of the affected clotting factor. Severe disease is defined as <1% factor activity, 1% to 5% factor activity is moderate disease, and greater than 5% factor activity constitutes mild disease. The extent of bleeding is dependent upon the severity (the amount of factor activity) and is similar for hemophilia A and B.
With severe hemophilia (A or B), bleeding begins at an early age and may occur spontaneously. Those with mild hemophilia may only bleed excessively in response to injury or trauma. Female carriers of hemophilia have variable degrees of factor activity; some may have near normal levels and do not show any bleeding tendencies, while some may have less than the predicted 50% reduction and may bleed more often than non-carrier females.
In severe hemophilia, bleeding episodes usually begin within the first 2 years of life. Severe bleeding after circumcision in men is sometimes the first sign of the disease. Symptoms may develop later in those with mild or moderate disease. Bleeding of hemophilia can occur anywhere in the body. Common sites of bleeding are the joints, muscles and digestive system. Specific locations and types of bleeding are discussed below.
- Hemarthrosis (bleeding into the joints) is characteristic of hemophilia. The knees and ankles are most often affected. The bleeding causes distension of the joint spaces, significant pain, and over time, can be disfiguring. Over time, joint destruction occurs, and joint replacement surgeries can be required.
- Bleeding into the muscles may occur with hematoma formation (compartment syndrome).
- Bleeding from the mouth or nosebleeds may occur. Bleeding after dental procedures is common, and oozing of blood from the gums may occur in young children when new teeth are erupting.
- Bleeding from the gastrointestinal tract can lead to blood in the stool.
- Bleeding from the urinary tract 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, and can lead to death.
- Increased bleeding after surgery or trauma is characteristic of hemophilia.
How is hemophilia diagnosed?
The majority of patients with hemophilia have a known family history of the condition. However, about one-third of cases occur in the absence of a known family history. Most of these cases without a family history arise due to a spontaneous mutation in the affected gene. Other cases may be due to the affected gene being passed through a long line of female carriers.
If there is no known family history of hemophilia, a series of blood tests can identify which part or protein factor of the blood clotting mechanism is defective if an individual has abnormal bleeding episodes.
The platelet (a blood particle essential for the clotting process) count and bleeding time test should be measured as well as two indices of blood clotting, the prothrombin time (PT) and activated partial thromboplastin time (aPTT). A normal platelet count, normal PT, and a prolonged aPTT are characteristic of hemophilia A and hemophilia B. Specific tests for the blood clotting factors can then be performed to measure factor VII or factor IX levels and confirm the diagnosis.
Genetic testing to identify and characterize the specific mutations responsible for hemophilia is also available in specialized laboratories.
Is it possible to know if you are a carrier of hemophilia?
Since men with the genetic mutation will have hemophilia, a man who does not have the condition cannot be a carrier of the disease. A woman who has a son with known hemophilia is termed an obligate carrier, and no testing is needed to establish that she is a carrier of hemophilia.
Women whose carrier status is unknown can be evaluated either by testing for the clotting factors or by methods to characterize the mutation in the DNA. The DNA screening methods are generally the most reliable.
Prenatal diagnosis is also possible with DNA-based tests performed on a sample obtained through amniocentesis or chorionic villus sampling. Most individuals are seen and tested by consultants who specialize in genetically linked diseases.
What are treatments for hemophilia?
The mainstay of treatment is replacement of the blood clotting factors. Clotting factor concentrates can be purified from human donor blood or made in the laboratory using methods that do not use donor blood. This type of therapy is known as replacement therapy. Clotting factor replacement therapy is carried out by infusing the clotting factor concentrates into a vein, much like a blood transfusion. This type of therapy can be administered at home with proper instruction and training.
Depending upon the severity of the condition, replacement therapy of the deficient clotting factor may be carried out on an as-needed basis (called demand therapy) or on a regular basis to prevent bleeding episodes (known as prophylactic therapy).
People who have mild cases of hemophilia A are sometimes treated with the drug desmopressin, also known as DDAVP. This drug stimulates release of substances from platelets that help form the platelet plug. It is administered either slowly through the intravenous route (IV) or, occasionally, in nasal spray form.
Pain relievers may be prescribed for symptom relief, but pain relievers other than aspirin or non-steroidal anti-inflammatory medications (such as naproxen, ibuprofen) must be used, since these types of drugs further inhibit the blood’s ability to clot. Acetaminophen (Tylenol and others) is often given for pain relief.
A major complication of treatment is the development of so-called inhibitors to the clotting factors. Inhibitors (antibodies) are produced because the body sees the factor concentrates used to treat patients to reduce or prevent bleeding, as foreign and activates an immune response in the patient to destroy the foreign substances (factor VIII or factor IX).
Factor VIII inhibitors are the most common and occur in about one-third of those with severe hemophilia A and about 1 in 50 people with mild or moderate hemophilia A. Typically develop in childhood in those with severe hemophilia A and then in life in cases More moderate. The inhibitors inhibit both the factor VIII and any factor in the body. This is a serious double of treatment because the agent concentrates are no longer effective in treating this condition. The action of inhibitors to destroy Factor VIII focuses on different degrees of severity among individuals and may vary over time in the same individual.
In about two-thirds of cases, the inhibitors disappear on their own or with treatment known as immune tolerance therapy (ITT) or immune tolerance induction (ITI). In cases of severe hemophilia A with persistence of inhibitors, other factor concentrates, such as activated prothrombin complex concentrate or recombinant factor VIIa, are administered to attempt to help control bleeding.
The development of inhibitors to factor IX is much less common and occurs in about 1% of those with hemophilia B. However, these can cause a very serious allergic reaction when factor IX concentrates are given. Immune tolerance therapy to eliminate inhibitors is less successful than with hemophilia A.
Bloodborne infections, such as HIV, hepatitis B and C, were major complications in the treatment of hemophilia during the 1980s. This infection has been transmitted through agent concentrates and other blood products used to treat hemophilia. The use of large groups of blood donors to develop working centers and the absence of specific tests of infectious agents contributed to the contamination of blood products used for the treatment of hemophilia. In 1985, about 90 per cent of people with severe hemophilia were infected with HIV and about half of the people with hemophilia were infected with HIV. Currently, the best detection and manufacturing practices, including virus removal techniques, as well as the development of recombinant agents, basically eliminate these tragic complications of treatment.
Can hemophilia be prevented?
Hemophilia is a genetic (inherited) disease and cannot be prevented. Genetic counseling, identification of carriers through molecular genetic testing, and prenatal diagnosis are available to help individuals understand their risk of having a child with hemophilia.
Centers for Disease Control. Hemophilia.