Transcript Hemophilia
HEMOPHILIA Jessica Martin 2nd period WHAT IS HEMOPHILIA? Hemophilia is a medical condition in which the ability of the blood to clot is severely reduced, causing the sufferer to bleed severely from even a slight injury. CAUSES • Hemophilia is caused by a mutation in one of the genes located on the X chromosome. • This particular gene provides instructions for making the clotting factor proteins needed to form a blood clot. This change can prevent the clotting protein from working properly or can cause it to be missing completely. • Men have a greater chance to inherit the disease because they only have one copy of the X chromosome, whereas women have two and deactivate one of them. • Although hemophilia does run in some families, some families have no prior history of family members with the disease. SYMPTOMS Common symptoms of hemophilia include: Bleeding into the joints which can cause swelling and pain or tightness. Bleeding into the skin (bruising). Muscle causing a build-up of blood in the area, known as a hematoma. Severe bleeding of the mouth and gums, especially hard to stop after losing a tooth. Severe bleeding after having shots, or vaccinations. Blood in the urine or stool. Frequent and hard-to-stop nosebleeds. Bleeding in the head and brain can cause long term problems, such as seizures and paralysis. Death can occur if the bleeding cannot be stopped or if it occurs in a vital organ. TYPES There are several different types of hemophilia; however, these two types are the most common. Hemophilia A (Classic Hemophilia) This type is caused by a lack or decrease of clotting factor VIII. It occurs in about one in 5000 male births and affects about 25,000 individuals in the US. Hemophilia B (Christmas Disease) This type is caused by a lack or decrease of clotting factor IX. It occurs in about one in 25,000 male births and affects about 3,300 people in the US. Both types affect all races and ethnic groups equally. TREATMENT The best way to treat hemophilia is to replace the missing blood clotting factor so that the blood can clot properly. This is done by infusing (through a vein) commercially prepared factor concentrates. People with the disease can learn how to perform these infusions themselves in case of bleeding episodes and, by performing the infusions on a regular basis, can even prevent the episodes from occurring. Extreme joint swelling due to bleeding within. Bruising within the skin.