Hemophilia is a blood clotting disorder which is derived through the X chromosome Therefore, this disease is more common in men because they only have X chromosomes, while women generally become carriers of nature alone (carrier). However, women can also suffer from hemophilia if you get the X chromosome from the father and mother a carrier of hemophilia carriers.
Hemophilia disease is characterized by spontaneous bleeding or bleeding that is difficult to stop. Besides bleeding does not stop because of injuries, people with hemophilia can bleed spontaneously at the muscle and elbow joints.
In normal people, when bleeding occurs, the blood vessels will shrink and pieces of blood (platelets) will cover the wound on the vessel. At the same time, platelets it does make the webbing (the threads of fibrin) to close the wound to stop blood flow out of the vessel. In hemophiliacs, the process is not going perfectly. Lack of blood clotting factors causing webbing wound closure was not fully formed so that the blood continues to flow out of the vessels that can lead to dangerous. Bleeding on the inside which can interfere with joint function resulting in muscle joints become stiff and lame, even if bleeding continues to cause death at an early age.
Hemophilia is divided into two types, namely hemophilia A and hemophilia B. Hemophilia A is caused by deficiency of Factor VIII in the blood, while hemophilia B is caused by a deficiency of Factor IX. Normal levels of Factor VIII and Factor IX is 50-200%. While in healthy people, the average value of both the blood clotting factor that is 100%. In severe hemophiliacs, levels of Factor VIII or Factor IX in the blood of less than 1%. For hemophilia is, there are only 1-5%. In mild hemophilia, there are around 60-30%.
The main feature of hemophilia is that the expression varies significantly in the degree of severity of bleeding. Hemophilia is generally classified into three groups according to the severity of factor deficiency.
1. severe disability with less than 1% of the normal number of factors; individuals affected by bleeding spontaneously or from minor trauma and can actually die from exsanguinations
2. Moderate disabilities with a concentration of 1% to 5% affected individuals usually bleed after some type of trauma but do not bleed spontaneously
3. minor defects with levels ranging between 5% and 25% of affected individuals manifest tendency to bleed after they sustain a serious injury or surgery, such as tooth extraction or tonsillectomy.
At about 80% of cases of hemophilia, inherited shown as X-linked recessive disorder. The most common pattern of transmission is between men and women are not affected-carrier properties with improved treatment for people with hemophilia, it is important to consider the results of mating between male and female normal women affected or carrier. For example, the marriage of a man affected with a carrier female results in a 01:04 chance of a good result in the affected child or woman, the daughter of the carrier, or a normal child. This is one of the few ways in which women could be a hemophiliac.
Another reason for women's expression of this disease include
1. A "symptom" breadwinner of classical hemophilia with factor VIII moderate disability
2. a phenotypic woman who has inherited the recessive gene for hemophilia, but do not have a second X chromosome, as in Turner's syndrome
3. A woman with autosomal dominant transmitted form of factor VIII deficiency, such as von willebrands's disease
4. A woman with severe factor deficiency whose parents are normal or abnormal chromosomes.
Pathophysiology
In the hemophilia A factor VIII molecule is present but the defect in the clotting function. Factor VIII-related antigen (FVIIIR: Ag) are normal. In hemophilia B may have disabilities or lack of factor IX.
Clinical manifestations
Effect of prolonged bleeding in hemophilia is anywhere from or in the body. With the weight factor deficiency bleeding can occur as a result of minor trauma, such as after a circumcision, during the loss of deciduous teeth, or as a result of minor falls or bruises.
subcutaneous and muscle bleeding is common, Hemarthrosis, bleeding into the cavities of joints, especially knees, ankles, and elbows, is the most frequent site of internal bleeding and often lead to changes in bone and consequently cripple, disable defects, spontaneous hematuria is not uncommon, would epistaxis incurred but not as frequently as other types of bleeding.
Bleeding into the tissue can occur anywhere but serious if it occurs in the neck, mouth, or chest, because the airway can become blocked, intracranial bleeding can lead to fatal consequences, although this occurs less frequently than expected because the brain has a high concentration of tissue thromboplastin . Hemprrhage anywhere along the digestive tract can cause obstruction, melena and vomiting blood. Hematoma in the spinal cord can cause paralysis.
Petechiae are rare in people with hemophilia because of the small bleeding improvement depends on platelet function, not on blood clotting mechanisms
