Hemophilia: Hemophilia Ms. Kirandeep Randhawa Army college of nursing Jalandhar cantt Definition : Definition Haemophilia is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken. Body forms antibodies (proteins) to the clotting factors in your bloodstream. The antibodies can prevent the clotting factors from working. Cont…: Cont… Haemophilia A (clotting factor VIII deficiency) is the most common form of the disorder, occurring at about 1 in 5,000–10,000 male births. Haemophilia B (factor IX deficiency) occurs at about 1 in about 20,000–34,000 male births. About 18,000 people in the United States have hemophilia. Each year, about 400 babies are born with the disorder. Hemophilia usually occurs only in males Classification : Classification Hemophilia A Classic hemophilia Factor VIII deficiency Hemophilia B Christmas disease Factor lX deficiency Chromosomes related to genes: Chromosomes related to genes Chromosomes come in pairs. Females have two X chromosomes, while males have one X and one Y chromosome. Only the X chromosome carries the genes related to clotting factors. A male who has the abnormal gene on his X chromosome will have hemophilia. A female must have the abnormal gene on both of her X chromosomes to have hemophilia; this is very rare. Cont…………: Cont………… A female is a "carrier" of hemophilia if she has the abnormal gene on one of her X chromosomes. Even though she doesn't have the condition, she can pass the gene on to her children. Below are two examples of how the hemophilia gene is inherited. Cont…: Cont… Each daughter has a 50 percent chance of inheriting the abnormal gene from her mother and being a carrier. Each son has a 50 percent chance of inheriting the abnormal gene from his mother and having hemophilia. Cont….: Cont…. The diagram shows another example of how the hemophilia gene is inherited. In this example, the father has hemophilia (that is, his X chromosome is abnormal). The mother isn't a hemophilia carrier (that is, she has two normal X chromosomes). Each daughter will inherit the abnormal gene from her father and be a carrier. None of the sons will inherit the abnormal gene from their father, and, therefore, none will have hemophilia. Cont………: Cont……… Females who are carriers usually have enough clotting factors from their one normal X chromosome to prevent serious bleeding problems. Very rarely, a girl is born with hemophilia. This can happen if her father has hemophilia and her mother is a carrier. Etiology: Etiology A person with hemophilia has a problem with certain proteins in the blood called clotting factors. Hemophilia can be due to: A low level of one of the clotting factors A clotting factor that is completely missing Cont…: Cont… Hemophilia is an inherited disorder. It is caused by a defect in the genes that determine how the body makes blood clotting factors VIII and IX. Chromosomes come in pairs. If she has a son, there is a one in two (50 percent) chance that he will have hemophilia. Signs and symptoms: Signs and symptoms The major signs and symptoms of hemophilia are bleeding and bruising . Internal bleeding is common in people with severe hemophilia. If not treated promptly, internal bleeding can lead to damaged joints, muscles, or other parts of the body. The extent of bleeding depends on the type and severity of the condition: Children with very mild hemophilia may not have noticeable symptoms for years. Children with mild to moderate hemophilia may not have any signs or symptoms at birth. Cont…..: Cont….. The most common signs or symptoms in older children and adults are: Bleeding in the joints (hemarthrosis) Bleeding and bruising in the soft tissue and muscles Bleeding in the mouth from a cut or bite or loss of a tooth Nosebleeds for no obvious reason Blood in the urine Blood in the stool classsification: classsification Hemophilia A and B are classified as mild, moderate, or severe, depending on the amount of clotting factor VIII or IX in the blood. Mild hemophilia 5–30 percent of normal clotting factor Moderate hemophilia 1–5 percent of normal clotting factor Severe hemophilia Less than 1 percent of normal clotting factor management: management The main treatment for hemophilia is called replacement therapy. Concentrates of clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are slowly dripped in or injected into a vein. These infusions help replace the clotting factor that's missing or low. Clotting factor concentrates can be made from human blood that has been treated to prevent the spread of diseases, such as hepatitis. With the current methods of screening and treating donated blood, the risk of getting an infectious disease from human clotting factors is very small. Cont…..: Cont….. To further reduce that risk, you or your child can take clotting factor concentrates that don't use human blood. These are called recombinant clotting factors. Clotting factors are easy to store, mix, and use at home—it only takes about 15 minutes to receive the factor. Replacement therapy on a regular basis to prevent bleeding. This is called preventive or prophylactic therapy. Or, only need replacement therapy to stop bleeding when it occurs. This use of the treatment, on an as-needed basis, is called demand therapy. Demand therapy is less intensive and less expensive than preventive therapy.. CONT………: CONT……… Complications of replacement therapy include : Developing antibodies (proteins) that act against the clotting factor Developing viral infections from human clotting factors Damage to joints, muscles, or other parts of the body resulting from delays in treatment CONT…: CONT… Antibodies to the clotting factor. Antibodies can destroy the clotting factor before it has a chance to work. This is a very serious problem. It prevents the main treatment for hemophilia (replacement therapy) from working. Antibodies to clotting factor, also called inhibitors, develop in about 20 percent of people who have severe hemophilia A and 1 percent of people who have hemophilia B. CONT….: CONT…. Viruses from human blood factors. Clotting factors can carry the viruses that cause HIV/AIDS and hepatitis. However, the risk of getting an infectious disease from human clotting factors is very small due to: Careful screening of blood donors Testing of donated blood products Vaccinating people who have hemophilia for hepatitis A and B Researchers continue to find ways to make blood products safer. CONT……..: CONT…….. Damage to joints, muscles, and other parts of the body . Damage resulting from delays in treatment can include: Bleeding into a joint. If this happens many times, it can lead to changes in the shape of the joint and impair function). Swelling of the membrane around a joint. Pain, swelling, and redness of a joint. Pressure on a joint from swelling, which can destroy the joint. CONT…………: CONT………… Desmopressin (DDAVP) is a synthetic hormone used to treat people with mild to moderate hemophilia A. DDAVP cannot be used to treat hemophilia B or severe hemophilia A. DDAVP stimulates the release of factor VIII and von Willebrand factor stored in blood vessels and increases the level of these proteins in the blood. Von Willebrand factor carries and binds factor VIII, which then can stay in the blood circulation longer. DDAVP usually is given by injection or in a nasal spray. CONT…: CONT… Antifibrinolytic drugs (including tranexamic acid and aminocaproic acid) are medicines used with factor treatment. They are usually given as a pill to help keep clots from breaking down. They are most often used: Before dental work For treating bleeding from the mouth or nose For mild intestinal bleeding CONT…….: CONT……. Gene Therapy Researchers are trying to find ways to correct the faulty genes that cause hemophilia. Such gene therapy hasn't yet developed to the point that it's an accepted treatment. But researchers continue to test gene therapies for hemophilia in clinical trials. contraindications: contraindications Anticoagulants such as Heparin and Warfarin are contraindicated for people with haemophilia as these can aggravate clotting difficulties. Also contraindicated are those drugs which have "blood thinning" side effects . For instance, medications which contain aspirin , ibuprofen , or naproxen sodium should not be taken because they are well known to have the side effect of prolonged bleeding. Cont…: Cont… Also contraindicated are activities with a high likelihood of trauma, such as motorcycling and skateboarding . Popular sports with very high rates of physical contact and injuries such as American football , hockey , boxing , wrestling , and rugby should be avoided by people with haemophilia. Other active sports like soccer , baseball , and basketball also have a high rate of injuries, but have overall less contact and should be undertaken cautiously and only in consultation with a doctor. VON WILLEBRAND DISEASE: VON WILLEBRAND DISEASE Inherited or acquired bleeding disorders characterized by decreased level of von willelbrand factor and prolonged bleeding time. Pathopysiology and etiology – von willebrand factor sythesized in vascular endothelium ,megakaryocytes, and platelet ;enhance platelet adhesion as first step in clot formation , also act as carrier of factor VIII in blood . Von wilebrand is most common inherited bleeding disorders include multiple subtypes with varying severity . Cilinical manifestation: Cilinical manifestation Mucosal and cutaneous bleeding Prolonged bleeding from cuts or after dental and surgical procedures Diagnostic – Bleedding time - prolonged Von wiilebrand factor – decreased Factor VII – Generally decreased management: management Replacement of von willebrand factor and factor VII using clotting factor concentrates. Antifibrinolytic medication – (amcicar, tranexamic acid ) to stabilize clot formation before dental procedures and before minor surgery. Desmopressin acetate (DDAVP) A Synthetic analogue of vasopressin may be used to manage mild to moderate bleeding Estrogen and progesterone – stimulate production of villebrand factor and factor VII and may be particularly helpful in control of mennorhagia. complications: complications Severe blood loss or bleeding into vital organs may be life threatening. Nursing assesment – Obtain history of bleeding episodes such as menstrual flow,epistaxsis,hematuria,etc. Physical examination for signs and symptoms of bleeding RISK FOR INJURY RELATED TO BLEEDING DUE TO DECREASED LEVEL OF VONWILLEBRAND FACTOR AND FACTOR VIII GOAL – minizing bleeding Intervention – Cont….: Cont…. Institute bleeding precautions Avoid hard tothbrushes,floss etc Avoid IM inj.,tourniquets, rectal procedures, suppositories Administer stool softeners Restrict activity and exercises Administer blood products as ordered . Use topical hemostatic agents such as absorbable gelatin ,oxidized cellulose ,topical adrenalin . .: .