What is Hemophilia?

Hemophilia refers to a group of bleeding disorders in which there is a lack of factors necessary for blood coagulation. Although similar symptoms, despite the missing factor, the identification of specific factors is the lack of definitive treatment are allowed to substitute agents. The two most common forms of the disorder are classic hemophilia (hemophilia A or factor IX deficiency). After discussion primarily deals with the classic form, which accounts for about 75% of all cases.

the main feature of hemophilia is that its expression varies in degree of severity of bleeding. Hemophilia is usually classified into three groups according to the weight of factor.
1st Too less than 1% of the normal amount of factor, affected individuals bleed spontaneously or minor trauma, and can literally die of exsanguinations
2nd Moderate defects with the level of 1% to 5% of affected individuals is usually some kind of bleeding after trauma, but it does not bleed spontaneously
3rd Mild deficiencies with levels ranging between 5% and 25% of affected individuals manifest tendency of bleeding after withstand serious injury or surgery, such as dental extraction or tonsillectomy.

in approximately 80% of cases of hemophilia, inheritance proved to be X-linked recessive disease. The most common pattern of transmission between the same male and female traits-carrier with an improved treatment for people with hemophilia, it is important to take into account the results of mating between males and affect the normal female or female carriers. For example, mating affected male carrier of women results in a 01:04 chance of producing or influencing a son or daughter, a carrier daughter, son or normal. This is one of the few ways in which women can become hemophiliac.

and other reasons for women's expression of the disease include
First "symptomatic" worker of classical hemophilia with moderate deficiency of factor VIII
2.fenotipski woman who has inherited the recessive gene for hemophilia, but lack the second X chromosome, as in Turner's syndrome
3.ženski with an autosomal dominant form of transfer factor VIII deficiency, such as von willebrands disease
4.ženski with severe deficiency of factors whose parents are normal or chromosomal aberrations.

Pathophysiology
In hemophilia factor VIII molecule is present, but damaged in its function of coagulation. Factor VIII-related antigen (FVIIIR: Ag) was normal. In hemophilia B May there be a failure or lack of factor IX.

Clinical manifestations
Hemophilia is the effect of prolonged bleeding from or into any body. With severe factor deficiencies bleeding can occur as a result of minor trauma, such as after trimming, the loss of primary teeth, or as a result of a slight fall or bruise.

intramuscular and subcutaneous bleeding is common, hemarthrosis, bleeding into the joint cavity, especially the knees, ankles, knees, and is the most common site of internal bleeding, and often results in bone changes, and thus crippling, disabling deformities, spontaneous hematuria is uncommon, epistaxis Mau happen, but not as frequently as other types of bleeding.

Bleeding into the tissue can occur anywhere, but it is serious if it occurs in the neck, mouth, or chest, the airways can become obstructed, intracranial bleeding can lead to fatal consequences, although this happens less often than expected, jertkivo brain has a high concentration of thromboplastin. Hemprrhage anywhere along the digestive tract can lead to obstruction, melena, and vomiting blood. Hematomas in the spinal cord can cause paralysis.

petechiae are rare in people with hemophilia, because the repair of small bleeding depends on platelet function, and not on blood clotting mechanisms