Hemophilia
Hemophilia is an inherited bleeding disorder caused by a deficiency or defect of one of the proteins necessary for blood to properly clot. These proteins are known as clotting factors. The type and severity of a person’s hemophilia depends on which protein is involved and to what degree they are deficient. The most common forms are Hemophilia A (classic hemophilia) which is a deficiency of Factor VIII and Hemophilia B (Christmas Disease) which is a deficiency of Factor IX.
The genes that produce factor VIII and factor IX are located on the X chromosome. Women have two X chromosomes while males have one X and one Y chromosome. If a male inherits an affected X chromosome from his mother, he will have hemophilia. In 30% of cases, the hemophilia is not inherited but arises as a spontaneous mutation. While hemophilia is primarily expressed in males and carried by females. It is crucial for women with factor levels below 50% to receive a proper diagnosis of hemophilia. Early identification and appropriate management can significantly impact their health outcomes.
Severity of Hemophilia
While hemophilia is an inherited condition, the severity can vary widely even within the same family. This variability is influenced by factors such as the specific genetic mutation involved and individual biological differences. Some family members may have severe hemophilia, while others may have moderate or mild forms of the condition. Normal factor VIII or IX level is 50-200%. Mild hemophilia patients have a factor level between 6-50% and generally need to receive factor for surgery and injuries. Moderate hemophilia patients have a factor level between 1-5% and generally need to receive factor for injuries. Severe hemophilia patients have a factor level of less than 1% and can bleed spontaneously or without injury.
Diagnosis of Hemophilia
There are special blood tests used to diagnose hemophilia. Although there is not yet a cure for hemophilia, living easily with hemophilia is now possible with the advent of clotting factor concentrates that can be infused even at home.
Treatment
The treatment of hemophilia involves the intravenous injection of clotting factor for acute bleeding or for prevention of bleeding. For adults and children who bleed frequently, prophylaxis is strongly recommended as it reduces or eliminates orthopedic problems, days missed from work and improves quality of life. For those who bleed less frequently, the replacement of clotting factor is given only for acute bleeds.
A network of treatment centers that specialize in the diagnosis and treatment of bleeding disorders, such as Hemophilia and von Willebrand Disease, exists. In this region, you can contact the Hemophilia Center of Western PA for more information or to schedule an appointment.
Hemophilia Center of Western Pennsylvania
Sterling Plaza
201 N Craig St Suite 500
Pittsburgh, PA 15213
website: https://hcwp.vitalant.org
Phone: 412-209-7280 Fax: 412-209-7281