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HEMOPHILIA

I.  DEFINITION Hemophilia or Haemophilia is a rare bleeding disorder in which your blood doesn't clot normally. If you have hemophilia, you may bleed for a longer time than others after an injury. You also may bleed internally, especially in your knees, ankles, and elbows. This bleeding can damage your organs or tissues and may be life threatening. Clotting is the process by which your blood changes from a liquid to a solid state in order to stop bleeding. There are several types of hemophilia. All types can cause prolonged bleeding. If you have hemophilia and you have a cut, you'll bleed for a longer time than you would if your blood clotted normally. Small cuts usually aren't much of a problem. The greater health concern is deep internal bleeding and bleeding into joints. Hemophilia is a lifelong disease. But with proper treatment and self-care, most people with hemophilia can maintain an active, productive lifestyle.  There are different levels of hemophilia: mild, moderate, and severe: ‡ People with mild hemophilia (5% to 30% factor level) usually have problems with bleeding only after serious injury, trauma, or surgery. In many cases, mild hemophilia is not discovered until an injury or surgery or tooth extraction results in unusual bleeding. The first episode may not occur until adulthood. ‡ People with moderate hemophilia, about 15% of the hemophilia population, tend to have bleeding episodes after injuries. They may also experience occasional bleeding episodes without obvious cause. These are called "spontaneous bleeding episodes." ‡ People with severe hemophilia, about 60% of the hemophilia population, have bleeding following an injury and may have frequent spontaneous bleeding episodes, often into the joints and muscles.  Everyone inherits two sex chromosomes, X and Y, from his or her parents. A female inherits one X chromosome from her mother and one X chromosome from her father (XX). A male inherits one X chromosome from his mother and one Y chromosome from his father (XY). The gene that causes hemophilia is located on the X chromosome. A woman who gives birth to a child with hemophilia often has other male relatives who also have hemophilia. Sometimes, a baby will be born with hemophilia when there is no known family history. This means either that the gene has been "hidden" (that is, passed down through several generations of female carriers without affecting any male members of the family) or the change in the X chromosome is new (a "spontaneous mutation"). There are four possible outcomes for the baby of a woman who is a carrier. These four possibilities are repeated for each and every pregnancy: 1. A girl who is not a carrier 2. A girl who is a carrier 3. A boy without hemophilia 4. A boy with hemophilia With each pregnancy, a woman who is a carrier has a 25% chance of having a son with hemophilia. Since the father·s X chromosome determines the baby will be a girl, all the daughters of a man with hemophilia will be carriers. None of his sons, which is determined by the father through his Y chromosome, will have hemophilia. 

II. 

TYPES Hemophilia A (Factor VIII Deficiency) Hemophilia A is a hereditary bleeding disorder caused by a lack of blood clotting factor VIII. Without enough factor VIII, the blood cannot clot properly to stop bleeding. Hemophilia A is caused by an inherited X-linked recessive trait, with the defective gene located on the X chromosome. Females have two copies of the X chromosome, so if the factor VIII gene on one chromosome

The incidence of Factor XI is estimated at 1 in 100. In Israel. and also for unknown reasons (called "idiopathic"). Certain procedures carry an increased risk of bleeding such as. surgery in the urinary and genital tracts and nasal surgery. It is inherited in an autosomal dominant fashion. In a woman who carries the defective gene. but there can be quite a bit of variability with this deficiency. the gene on the other chromosome can do the job of making enough factor VIII.  III. while any of her female children will have a 50% chance of being a carrier. If levels of your deficient clotting factor are slightly to moderately low. Symptoms of spontaneous bleeding may include: o Many large or deep bruises o Joint pain and swelling caused by internal bleeding o Unexplained bleeding or bruising o Blood in your urine or stool . even life-threatening bleeding. factor XI deficiency has been estimated to be around 8% among Ashkenazi Jews. But uncontrolled internal bleeding can result in pain and swelling and permanent damage. It can occur with greater frequency in people of Ashkenazi Jewish descent because intermarriage among this group has been more prevalent. Woman may experience menorrhagia and prolonged bleeding after childbirth. you may bleed only after surgery or trauma. or blood in the urine. in people with certain autoimmune diseases such as rheumatoid arthritis. adults can develop a bleeding disorder similar to hemophilia A. Factor XI is another part of the cascade of clotting factors that form the chain leading to a protective clot.000. they will have hemophilia A. If levels of your deficient clotting factor are very low. a 20th-century British boy who was first diagnosed with it) is a deficiency in clotting factor IX. Individuals are not likely to bleed spontaneously. Patients are more prone to bruising. Most people with Hemophilia B are able to lead relatively normal lives. in people with certain types of cancer (most commonly lymphomas and leukemia). SIGNS AND SYMPTOMS Signs and symptoms of hemophilia vary depending on how deficient you are in clot-forming proteins called clotting factors. nosebleeds. so if the factor VIII gene on that chromosome is defective. Hemophilia B is a hereditary disorder in which the clotting ability of the blood is impaired and prolonged bleeding results. have only one X chromosome. Small wounds and punctures are usually not a problem. Hemophilia B (Factor IX Deficiency) Hemophilia is a bleeding disorder caused by a deficiency in one of the blood clotting factors. The outcome is good with treatment and management. Genetic testing is available for concerned parents. The incidence of hemophilia B is 1 out of 34. she is considered a carrier. Thus. tonsillectomies. most people with hemophilia A are male. Joint bleeds are uncommon. If a woman has a defective factor VIII gene. which means it affects men and women equally. however. dental extractions. All female children of men with hemophilia carry the defective gene. you may experience spontaneous bleeding. Males. Risk factors for hemophilia A include: y Family history of bleeding y Being male Rarely. Rosenthal Syndrome Factor XI was only first recognized in 1953. Hemophilia A is 7 times more common than hemophilia B. This means the defective gene can be passed down to her children. Hemophilia B (also called "Christmas disease" after Stephen Christmas. Some people with Factor XI deficiency may have milder symptoms that those of hemophilia. they can be associated with serious.  Hemophilia C (Factor XI Deficiency) Can also be known as Plasma Thromboplastin Antecedent (PTA) Deficiency. This may happen after giving birth (postpartum). especially to joints and muscles.doesn't work. making it one of the most common genetic disorders in this group. Although these situations are rare. any of her male children will have a 50% chance of having hemophilia A. and hemorrhage normally occurs after trauma or surgery.500 men.

work or school. especially if you have a severe form of hemophilia o Painful. using pressure and a bandage will generally take care of the wound. Bleeding may stop only after an infusion of clotting factor derived from donated human blood or from genetically engineered products called recombinant clotting factors. most people with the disease can lead fairly normal lives. Review emergency measures to help stop bleeding. If internal bleeding has damaged joints. In cases where repeated bouts of internal bleeding has damaged or destroyed joints. such as knees. NURSING MANAGEMENTS             V. hips and shoulders. or after surgery or tooth extraction Nosebleeds with no obvious cause Tightness in your joints Emergency signs and symptoms of hemophilia may include: o Sudden pain. For small areas of bleeding beneath the skin. Hemophilia treatment varies depending on the severity of the condition:  Mild hemophilia A. and warmth of large joints. Regular. elbows. Plasma infusions are needed to stop bleeding episodes. swelling. an artificial joint may be needed.  Hemophilia C. Occasionally. Discuss alternative noncontact sports and recreational activities. and of the muscles of your arms and legs o Bleeding from an injury. lasting headache o Repeated vomiting o Extreme fatigue o Neck pain o Double vision IV. For minor cuts If you or your child experiences a small cut or scrape. preventive infusions of a clotting factor two or three times a week may help prevent bleeding. Your doctor or child's doctor can train you to perform infusions of desmopressin or of the clotting factor at home. work or school.  Moderate to severe hemophilia A or hemophilia B. and limit side effects such as damage to joints. This approach may reduce time spent in the hospital and away from home. Reiterate the importance of seeking prompt medical attention if bleeding should occur. use an ice pack. Repeated infusions may be needed if the internal bleeding is serious. Treatment may involve slow injection of the hormone desmopressin (DDAVP) into a vein to stimulate a release of more clotting factor to stop the bleeding. Therapy can preserve their mobility and help prevent frozen or badly deformed joints. Advice regarding the importance of wearing a MedicAlert bracelet identifying him as a hemophiliac. physical therapy can help them function better. desmopressin is given as a nasal medication. . Avoid IM injection Maintain Safety during transfusion Prevention of injury Avoid administration of Aspirin Pain management Provide Genetic Counseling MEDICAL MANAGEMENTS While there's no cure for hemophilia. Monitor vital signs and for further signs of bleeding.o o o Prolonged bleeding from cuts or injuries. Assess airway and auscultate breath sounds.

therefore. The blood clotting factors are necessary for the formation of prothrombin to thrombin. May appear in females if a female carrier bears offspring with a malehemophiliac The basic defect is the intrinsic phase of the coagulation cascade. 7th Edition . The result is an unstable fibrin clot. Transmitted by asymptomatic females 3. Sex-linked. 2.caused by a gene carried on the X chromosome. recessive trait . making them carriers 5.VI. Affected males may pass the gene to female offspring. 1. The rapidity of the clotting process is proportionall to the amount of thrombin formed. Appears in males who have the hemophilic gene on their only X chromosome 4. 2. Platelet number and function are normal. The rate of formation of thrombin from prothrombin is almost directly proportional to the amount of prothrombin activator available. small lacerations and minor hemmorhage are usually not a problem Source: The Lippincott Manual of Nursing Practice. PATHOPHYSIOLOGY HEMOPHILIA HEREDITARY (Approximately 80% of patients Spontaneous mutations may cause the condition when the family history is negative for the disease (about 20% of patients 1.

The mother isn't a hemophilia carrier (that is.Inheritance Pattern for Hemophilia³Example 1 The diagram shows one example of how the hemophilia gene is inherited. The mother is a carrier of hemophilia (that is. 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. . therefore. Inheritance Pattern for Hemophilia³Example 2 The diagram shows another example of how the hemophilia gene is inherited. none will have hemophilia. she has two normal X chromosomes). the father has hemophilia (that is. In this example. and. his X chromosome is abnormal). she has one abnormal X chromosome and one normal X chromosome). the father doesn't have hemophilia (that is. he has two normal chromosomes³X and Y). Each son has a 50 percent chance of inheriting the abnormal gene from his mother and having hemophilia. In this example. Each daughter has a 50 percent chance of inheriting the abnormal gene from her mother and being a carrier.

nhlbi.com/hemophilia/article_em. Mayo Clinic.com/health/hemophilia/DS00218 3.REFERENCES: 1.hemophilia.nlm.htm 6. Lung.gov/medlineplus/ency/article/000538.aspx?menuid=180&contentid=45&rptname=bleeding 5.Com o http://www. ANP Copyright 2001 by Lippincott Williams and Wilkins . and Blood Institute: o http://www. Louisiana Hemophilia Foundation http://www.html 2.htm VII. 7th Edition Author: Sandra M. The Lippincott Manual of Nursing Practice.louisianahemophilia. Nettina. RN.org/NHFWeb/MainPgs/MainNHF.org/hemophilia_b. eMedicine Health. National Heart.gov/health/dci/Diseases/hemophilia/hemophilia_what.emedicinehealth.nih.mayoclinic. Medline Plus http://www. CS.htm 4. experts for everyday emergencies o http://www. MSN. National Hemophilia Foundation for all bleeding and clotting disorders o http://www.nih.