Hemophilia is a a genetically determined disorder and is characterized by abnormality of the coagulation mechanism due to functional deficiency of a specific factor, namely VIII or IX.
The name hemophilia was coined by Hopff in 1828. Wright demonstrated that disorder involves prolonged clotting time.
The estimated incidence is between 0.8-1 per 10,000 male births. The hemophiliac may be classified as follows:
Hemophilia A
This is classic hemophilia that results from a congenital deficiency of factor VIII antihemophilic factor (AHF) or antihemophilic globulin (AHG). This constitutes 80 percent of cases and is X linked in inhertance. It occurs in the male and is transmitted by asymptomatic female carriers.
Hemophilia B
It is also known as Christmas disease and is due to a deficiency of factor IX (plasma thromboplastin component (PTC) or Christmas factor. Its clinical manifestations are quite similar to those of classic hemophilia. The hereditary transmission is also by an X-linked recessive gene. This type is the cause of about 15 percent of cases.
Van Willebrand’s Disease
In this bleeding disorder both factor VIII deficiency and platelet functional abnormality are present. It is inherited as an autosomal dominant trait, occurring in both males and females. The bleeding disorder is relatively mild.
Clinical Picture
Uncontrolled hemorrhage and repeated episodes of bleeding are the hallmarks of hemophilia. The severity of the disease varies from patient to patient, but it is constant in any one patient.
- When the functional plasma level of the factor is 25 to 50 percent of normal the hemophilia is mild. Excessive bleeding occurs only after major trauma or during surgery
- When the plasma level of the factor is 5 to 25 percent of normal, the hemophilia is moderate. Severe uncontrolled bleeding occurs after minor injury or during an operative procedure;
- When plasma level of the factor it is 1 to 5 percent of normal the hemophilia is moderately severe with major hemorrhage taking place after minor injury or unrecognized mild trauma.
- When the plasma levels of factor VIII or IX are below 1 percent, the hemophilia is considered very severe. There are repeated spontaneous hemorrhages into joints and bleeding into deep soft tissues.
Abnormal bleeding in hemophilia may occur in any area of the body. Joints are the most frequent sites of repeated hemorrhage followed by muscles and soft tissues.
When haemophila is severe, the abnormal bleeding may manifest itself in the neonatal period or early infancy. Abnormal bleeding into joints and soft tissues is noted by the parents when child begins to crawl or walks.
About three fourths of bleeding sustained by hemophiliac is into either the joints, the deep soft tissues, or both.
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