Geometry.Net - Basic_H: Hemophilia

What Is Hemophilia?
hemophilia is a rare inherited bleeding disorder. The blood does not clot normally. Persons with hemophilia may bleed for a longer time following an injury
http://www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia_what.html

Extractions: What Is ... Other Names Causes Diagnosis ... Links People born with hemophilia have little to none of a protein needed for normal blood clotting. The protein is called a clotting factor. There are several types of clotting factors, and they work together with platelets to help the blood clot. Platelets are small pieces of blood cells that are formed in the bone marrow. They play a major role in blood clotting. In addition to being inherited, hemophilia also can be acquired, which means that you can develop it during your lifetime. It can develop if your body forms antibodies to the clotting factors in your bloodstream. The antibodies can block the clotting factors from working. Only inherited hemophilia is discussed in this article. About 18,000 people in the United States have hemophilia. Each year, about
Haemophilia - Wikipedia, The Free Encyclopedia
In the most common form, hemophilia A, clotting factor VIII is absent. hemophilia is nearly always caused by a genetic error causing the lack of a
http://en.wikipedia.org/wiki/Hemophilia

Extractions: Classification and external resources ICD D D ICD ... MeSH Haemophilia (also spelled as hemophilia , from the Greek haima "blood" and philia "to love" ) is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation . In its most common form, Hemophilia A , clotting factor VIII is absent. In Haemophilia B factor IX is deficient. Hemophilia A occurs in about 1 in 5,000â10,000 male births , while Hemophilia B occurs at about 1 in about 20,000â34,000. The effects of this sex-linked X chromosome disorder are manifested almost entirely in males, although the gene for the disorder is inherited from the mother. Females have two X chromosomes while males have only one, lacking a 'back up' copy for the defective gene. Females are therefore almost exclusively carriers of the disorder, and may have inherited it from either their mother or father. In about 30% of cases of Hemophilia B, however, there is no family history of the disorder and the condition is the result of a spontaneous gene mutation . A mother who is a carrier has a 50% chance of passing the faulty X chromosome to her daughter, while an affected father will always pass on the affected gene to his daughters. A son cannot inherit the defective gene from his father.
Welcome To The National Hemophilia Foundation
The National hemophilia Foundation is dedicated to finding better treatments and cures for bleeding and clotting disorders and to preventing the
http://www.hemophilia.org/

Extractions: Forgot Password? Join NHF or Renew Your Membership Personalize this Web site Subscribe to NHF eNotes, our Monthly Online Newsletter ... Chapter Center Welcome to the National Hemophilia Foundation The National Hemophilia Foundation is dedicated to finding better treatments and cures for bleeding and clotting disorders and to preventing the complications of these disorders through education, advocacy and research.
Hemophilia
hemophilia is a rare bleeding disorder that prevents the blood from clotting properly.
http://www.kidshealth.org/parent/medical/heart/hemophilia.html

Extractions: var fo = new FlashObject("/updates/P_squarebanner.swf", "pl2", "153", "126", "5", ""); fo.addParam("QUALITY", "High"); fo.write("parent_left_flash_2"); var fo = new FlashObject("/image/parentnav/whatsNew_squarebanner.swf", "pl3", "153", "108", "5", ""); fo.addParam("QUALITY", "High"); fo.write("parent_left_flash_3"); var fo = new FlashObject("/image/parentnav/temp_banner.swf", "pl4", "153", "108", "5", ""); fo.addParam("QUALITY", "High"); fo.write("parent_left_flash_4"); KidsHealth Parents Medical Problems Bumps and scrapes are a part of every child's life. For most kids, a tumble off a bike or a stray kick in a soccer game means a temporary bruise or a healing scab. However, for kids with hemophilia, these normal traumas of childhood are reason for extra concern. Hemophilia is a rare bleeding disorder that prevents the blood from clotting properly. Currently, about 17,000 people in the United States have hemophilia. About 1 in every 5,000 boys is born with hemophilia; girls are more rarely affected by this genetic condition linked to gender. A male can't pass the gene for hemophilia to his sons, though all his daughters will be carriers of the disease gene. Each male child of a female carrier has a 50% chance of having hemophilia. What Is Hemophilia?
Hemophilia - Your Genes, Your Health - DNA Learning Center - Cold Spring Harbor
Your Genes, Your Health, DNA Learning Center s multimedia guide to genetic, inherited disorders hemophilia, sexlinked disorder, genetic disorder.
http://www.ygyh.org/hemo/description.html

Extractions: Fragile X Syndrome Hemophilia is caused by a dysfunctional or absent blood-clotting protein. Without this protein, stable clots do not form quickly over wounds. Weak clots form, but they are easily dislodged, so that people with hemophilia can bleed for days as clot after clot is dislodged from place. To understand why these changes cause hemophilia, and to understand the difference between hemophilia A and hemophilia B, we need to look at the details of clotting. The clotting process starts after the wall of a blood vessel is breached. The vessel constricts to reduce blood flow, and the platelets (bits of larger bone marrow cells) congregate at the damaged site. Though the platelets stop the bleeding, at this stage they are easily dislodged, and bleeding can resume. As the platelets arrive, molecules released from the damaged vessel activate clotting Factor 12. Factor 12 then activates another clotting protein by snugly fitting into the molecule, as a key fits inside a lock. Activated thrombin then snips small pieces off another protein called fibrinogen. When lots of fibrinogen is cut, the pruned molecules cover the platelets and stabilize the clot. To form a stable clot, all the molecules in the cascade must be present and properly shaped. In people with mild or moderate hemophilia A, Factor 8 is present but has a slightly dysfunctional shape that sometimes doesn't fit into the next molecule. Because the mutated Factor 8 succeeds in activating Factor 10 some of the time (doctors say its activity is between 5 and 35 percent of normal), people with mild or moderate hemophilia A don't bleed as long when injured and only rarely, or never, bleed spontaneously. People with mild hemophilia A have mutated Factor 8 proteins. This is due to a small mutation in their Factor 8 gene, located on the X chromosome. The gene's code carries the instructions for building the protein, so a minor change in the instructions causes a minor change in the shape of the protein. For people with severe hemophilia A, Factor 8 is usually absent, and the clotting cascade comes to a complete halt. Factor activity is less than one percent of normal. People with severe hemophilia A bleed spontaneously and can bleed for days after minor injuries. In people with severe hemophilia A, Factor 8 is not present, because their gene contains a much bigger mutation, like an inversion, that completely garbles the instructions for the protein. No Factor 8 can be produced from the garbled gene. When Factor 8 is normal, but the person still has hemophilia, a change in Factor 9 is usually the culprit. The disorder is called hemophilia B. In mild or moderate hemophilia B, a small mutation in the gene leads to a slightly dysfunctional Factor 9. The protein works occasionally to activate thrombin, and stable clots are eventually formed. When hemophilia B is severe, a more critical mutation in the gene completely misshapes the Factor 9 protein. The protein either can not be activated or can not activate the next molecule in the cascade. Before effective treatments were developed in the late 1960s, people with severe hemophilia died young (median age 11) from bleeding. With effective treatment, life expectancy is nearly normal, but repeated bleeding episodes can cause disabling arthritis in the joints. Damage to the joints (mainly knees, elbows, and ankles) starts when the synovium a thin lining inside the joint capsule thickens to absorb blood lost from the vessels. As the synovium thickens, it also acquires more blood vessels that make the joint prone to further injury. Another injury means more blood to absorb, and the synovium thickens again. With frequent re-injuries, the synovium never shrinks and remains swollen. Enzymes from the swollen synovium eat away at the cartilage that cushions the ends of the bones in the joint. The longer the synovium stays swollen, the more damage occurs. Eventually, the cartilage is eaten away, and bone begins to grind against bone, causing pain and reducing the joint's range of motion. Before making a diagnosis of hemophilia, a doctor will have to perform several blood tests to rule out other disorders that share symptoms with the disorder. The final blood test a Factor activity test confirms the person has hemophilia and also determines the type (A or B) and severity. This test determines how well each Factor performs relative to that of an unaffected person. A fully functional Factor has 100% of normal activity, while a completely non-functional Factor has 0% of normal activity. The amount of activity determines the severity of the disorder. The technical details of the test involve separating the patient's blood sample into red blood cells and plasma, and then adding a sample of the patient's plasma to another tube of normal plasma. But first, Factor 8 (represented by the blue dots) is removed from the normal plasma. A sample of the patient's plasma is then added to the tube. When the patient has hemophilia A, and therefore little or no Factor 8, the test tube still lacks sufficient amounts of the clotting protein. After a reagent is added to start the clotting cascade, white blood cells begin to clump together and form clots, which sink to the bottom. When the patient has hemophilia A, the absence of Factor 8 slows this process. If the patient has hemophilia B instead, his blood contains a normal amount of Factor 8, and the plasma clots quickly after the clotting reagent is added. To confirm the diagnosis of hemophilia B, another test measures the activity of Factor 9. This test is exactly the same as the hemophilia A test, except Factor 9 (represented by the red dots) is removed from the normal plasma instead of Factor 8. When the patient has hemophilia B, his plasma does not add any (or much) Factor 9 to the tube after a sample is transferred. Because there is little Factor 9 in the tube, clots form slowly, and the patient is diagnosed with hemophilia B. Once one person in a family has been diagnosed with hemophilia, it may be desirable to pinpoint the mutation so other family members can learn if they carry the mutation. (The blood test used for diagnosis does not detect asymptotic carriers). This is easy to do if the boy has a certain type of mutation called an inversion. About 50% of people with severe hemophilia A have this type of mutation. The test for an inversion generates a DNA fingerprint of the boy's Factor 8 gene. The inversion is absent when the fingerprint shows two dark bands of DNA at the 21.5 and 16.0 positions. The inversion is present when the fingerprint shows two bands of DNA closer together at the 20.0 and 17.5 positions. The basis for the inversion test lies in a structural difference between a gene with an inversion and a gene without an inversion. Enzymes that recognize this difference are added to the person's DNA sample. To measure the DNA, the geneticist sends them through a gel that separates and orders the pieces by size. She loads the sample at the top of the gel, and an electric current pushes them down through the gel matrix. (Several samples can be loaded next to each other in the same gel). As the pieces move down the gel, they wind their way through the tangled gel matrix. Small pieces do this easily so they zip through the gel quickly. Big pieces have a harder time so they move more slowly. After a set period of time, the pieces have lined up by size with the smallest pieces at the bottom and the biggest near the top. The DNA fingerprint is complete after the pieces are dyed, and they show up as dark bands. When a boy has the inversion, the same test is used on his female relatives to identify the carriers in his family. In this case, a person is a carrier if her results match the boy's inversion pattern. Searching for mutations is easier when the boy has hemophilia B, because the Factor 9 gene is four times smaller than the Factor 8 gene. Many labs simply determine the sequence of bases in the boy's gene and look for differences between it and a "normal" gene. In the example below, the boy's hemophilia is caused by a single base change (from a C to a G). Hemophilia is like any other sex-linked disorder, because the "hemophilia" gene is on the X chromosome. The X is one of two types of chromosomes X and Y that determine sex. Girls have two X chromosomes (making a girl a girl), and boys have one X and one Y (making a boy a boy). This "mismatch" in the sex chromosomes of boys makes them more susceptible to disorders caused by genes on the X. A girl has two Xs, and therefore, two Factor genes. If one is mutated, she can fall back on the other gene. A boy has only one X and one Factor gene. If he has a mutated Factor gene, he has no other copy to fall back on. A boy gets hemophilia when he inherits an X chromosome with a mutated Factor gene (XH) from his mother. He also inherits a Y chromosome from his father, but the Y does not contain the Factor gene. Therefore, the boy's clotting factors are produced from the mutated gene he got from his Mom. A boy can also get hemophilia even if his mother does not carry a mutated Factor gene. This happens if the gene mutates during egg production or early in the development of the embryo. About 20% of boys with hemophilia get the disorder in this manner. The severity of the boy's hemophilia depends on the specific mutation in his Factor gene. If the mutation is small like a one letter change in the gene the symptoms are usually mild or moderate. If the mutation is larger like a backward chunk the symptoms are usually severe. Another way a girl can get hemophilia though this is exceedingly rare is by inheriting TWO mutated Factor genes, one from her father and one from her mother. Hemophilia is a recessive disorder caused by mutated genes on the X chromosome. Girls have two X chromosomes, so two mutated Factor genes, one on each X, have to be inherited in order for a girl to develop hemophilia. Though girls also inherit the mutated Factor gene, they rarely develop hemophilia, because their second X chromosome has a normal gene. Because she has inherited the mutated gene (from either her father or mother), she is a carrier of hemophilia and can pass it to her own sons. In 90% of the case, the girl DOES NOT show any signs of hemophilia, because she has a second X chromosome that carries an unmutated Factor gene. The unmutated gene produce fully functional Factors that compensate for the "irregular" Factors produced by the mutated gene. In X-inactivation a normal process in all females every cell in the early embryo inactivates one of the two X chromosomes. Once inactivated, the chromosome shrivels up and sits on the edge of the cell nucleus. No Factor can be produced from the inactivated X. In each cell, the inactivation is random, like a coin flip. The chance that the mother's X will be inactivated is the same as the chance that the father's X will be inactivated. Usually, about half of the cells inactivate the mother's X, and the other half inactivate the father's X, but sometimes, the ratio heavily favors one type just by chance. After each cell inactivates one X, development continues, and each cell produces more "daughter" cells. Daughter cells inherit their chromosomes from the parent cell, so all daughter cells have the same active X as their parent. As development continues further, cells organize into different organs, including the brain. If the girl's liver mostly contains cells with an inactive X from Dad, the cells must use the fully mutated Factor gene from Mom's X. This gene does not produce any protein, and this girl develops hemophilia. If a couple carries a mutated Factor gene, their chance of producing a child with hemophilia, or a child who is a carrier, can be calculated with a Punnett Square. Let's start with a common situtation: a female carrier (XH represents her X chromosome with the mutated gene) and her unaffected male partner. To use the square, we first move the parents' chromosomes to the outer edges of the box. Each parent donates only one of their two sex chromosomes to the child, so we place one of the father's and one of the mother's into each box. Each completed box shows a potential combination (or genotype) in the child, and the entire square contains all possible combinations. Each box, or genotype, is equally likely, so there is a 1-in-4 (25%) chance that this couple will have a boy with hemophilia (rollover the XHY combo). There's also a 25% chance this couple will have an unaffected boy (XY), an unaffected girl (XX), or a girl who is a carrier (XXH). The most important thing to remember about these odds is that they apply to every child this couple has. It may be useful to think of the Punnett Square as a roulette wheel. Each child is a separate "spin of the wheel," so each child has a 25% chance of being a boy with hemophilia (or an unaffected boy, or an unaffected girl, or a carrier). In this family, two out of four children have hemophilia. Other couples with the mutation may have one, three, four, or even no children with the disorder. A Punnett Square also shows us the potential children a man with hemophilia can have. Usually, his partner will be a woman who does not carry the mutation. As before, we move the parents' chromosomes to the outer edges of the square, and then copy and paste them into the inner boxes. As before, we move the parents' chromosomes to the outer edges of the square, and then copy and paste them into the inner boxes. Two out of four boxes are unaffected boys, so there is a 50% chance this couple will have an unaffected boy (rollover the XY boxes). The other two boxes contain girls who carry the hemophilia mutation (XHX), so there is also a 50% chance this couple will have a girl who is a carrier. In the early 1980s, most people with hemophilia were infected with HIV, because the factors used for treatment were isolated from infected human plasma. Since then, virus-sterilizing techniques and the use of artificial factors have greatly reduced this risk. People with hemophilia bleed longer because their blood does not clot well. Without treatment, a person with severe hemophilia can bleed to death. With treatment, internal bleeding in the joints is the most problematic complication, because it leads to painful arthritis. Hemophilia is a sex-linked disorder that affects males of all races and ethnic groups. About 1 in 4,000 males are born with the disorder. Females can have the disorder but it is significantly rarer. A physician will use several blood tests to rule out other blood disorders before diagnosing hemophilia. The final test determines which factor is responsible and the factor's activity level. Genetic testing can uncover carriers and people with mild hemophilia. Hemophilia occurs when a person has a mutation in one of the clotting factor genes. Approximately 90% have a mutation in the Factor VIII gene (hemophilia A), 9% have a mutation in the Factor IX gene (hemophilia B), and 1% have a mutation in another clotting gene. People with hemophilia inject themselves with purified clotting factors to prevent or stop bleeding episodes. Additional treatment is necessary if the person's immune system attacks the injected clotting factors. What is it? What causes it? How is it inherited? How is it diagnosed? How is it treated? What is it like to have it? For more information Acknowledgments Characteristics Dr. Catherine Manno, Associate Director of the Hemophilia Program at the Childrens Hospital of Philadelphia, talks about bleeding episodes and two kinds of hemophilia. Symptoms Dr. Catherine Manno talks about symptoms in infants. Bleeds Dr. Catherine Manno talks about delaying bleeding and other kinds of bleeding. Mutations Dr. Catherine Manno talks about the severity of levels of hemophilia and the relation of severity levels to mutations. Factor Therapy Dr. Catherine Manno recommends recombinant concentrates. She discusses what it does and the age at which it would be used. History Dr. Catherine Manno discusses how treatments have evolved due to the risk of virus transmission. Easier Injections Dr. Catherine Manno talks about surgically implanted solutions and their risks. Spontaneous Bleeds Dr. Catherine Manno discusses spontaneous bleeds and locations in the body. Inhibitors Dr. Catherine Manno talks about the risks of developed antibodies and the treatments for them. Joint Disease Dr. Catherine Manno talks about chronic joint disease and its treatments. Mild Cases Dr. Catherine Manno talks about how desmopressin acetate (DDAVP) can be used to release stored Factor 8 in cases of mild hemophilia. Gene Therapy Dr. Katherine High, Medical Director of the Coagulation Laboratory at The Childrens Hospital of Phladelphia, talks about gene therapy and why hemophilia is a good model disease. Type B vs. A Dr. Katherine High explains the differences between hemophilia A and hemophilia B. AAV Dr. Katherine High talks about the advantages of using adeno-associated virus (AAV). Immune Response Dr. Katherine High discusses issues concerting the development of inhibitors. Muscle vs. Liver Dr. Katherine High explains the difference between injecting the vector intramuscularly and injecting the vector directly into the liver. Dog Trials Dr. Katherine High discusses results from working with hemophilic dogs to test the adeno-associated virus (AAV). Germline Transfer Dr. Katherine High talks about conflicts concerning delivering the vector to reproductive cells. Timeline Dr. Katherine High discusses the timeline in which their method of gene therapy must be validated so that it can be available to everyone. Bleeds and Treatments Paul talks about the experience of bleeds and how he prefers episodic treatment. Greg Price and his mother Linda talk about Prophylaxis treatment and how bleeds may occur. Advice for Parents (1) Paul supports the idea of a hemophilic child exploring his or her own boundaries of physical activity. Greg Price and his mother discuss physical freedom. Advice for Parents (2) Linda Price talks about issues concerning the manufacturers of treatments. Benefits of Summer Camp Greg Price explains how camp gave him exposure to illnesses other than hemophilia. Paul recalls how he found companionship with people who dealt with similar difficulties. Friends and School Greg Price talks about his experiences in school. Paul sometimes felt left out of the crowd because of hemophilia. Injections Paul explains how his mother would inject him when he was an infant. Linda Price talks about her sons self-injections. Paul talks about learning to inject himself at a camp in Colorado. Expenses and Insurance Linda Price talks about issues concerning insurance and how only specific job positions will offer the insurance coverage they need. Carrier Testing Linda Price discusses the importance of carrier testing and her concerns for relatives. Treatment Centers Dr. Catherine Manno talks about the advantages of a hemophilia treatment center. Greg Price and his mother discus the treatment center that they attend. Diagnosis Feelings Linda Price speaks about the unexpectedness and the life-changing effects of her sons diagnosis. Alzheimer Disease
MedlinePlus: Hemophilia
hemophilia is a rare inherited disorder in which the blood does not clot normally. About 18000 people in the U.S. have hemophilia.
http://www.nlm.nih.gov/medlineplus/hemophilia.html

Extractions: imageNames = false; @import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); @import url(http://www.nlm.nih.gov/medlineplus/images/header.css); @import url(http://www.nlm.nih.gov/medlineplus/images/menubutton.css); Skip navigation @import url("http://www.nlm.nih.gov/medlineplus/images/consumer_health_20.css"); Other Health Topics: The primary NIH organization for research on Hemophilia is the National Heart, Lung, and Blood Institute
Hemophilia - MayoClinic.com
hemophilia Comprehensive overview covers symptoms, causes and treatment of this bloodclotting disorder.
http://www.mayoclinic.com/health/hemophilia/DS00218

Extractions: Medical Services Health Information Appointments Education and Research ... About Hemophilia is a disorder of your blood-clotting system. 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. NEXT: Signs and symptoms Print this section All sections E-mail this
Hemophilia
hemophilia is an inherited bleeding disorder. The blood of someone with hemophilia will not clot normally. Bleeding may occur spontaneously or following
http://www.emedicinehealth.com/hemophilia/article_em.htm

Extractions: Hemophilia - on WebMD Hemophilia is an inherited bleeding disorder. The blood of someone with hemophilia will not clot normally. Bleeding may occur spontaneously or following injury Hemophilia occurs in 2 forms, hemophilia A and B. In both forms, a gene is defective. The defective gene interferes with the ability of the body to produce the clotting factors that allow for normal clotting. The result is a tendency for abnormal , excessive bleeding. Hemophilia A occurs in 1 in 10,000 people. Hemophilia B occurs in 1 in 40,000.
Hemophilia - Genetics Home Reference
hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition often experience prolonged bleeding or oozing following
http://ghr.nlm.nih.gov/condition=hemophilia

Extractions: About Site Map Contact Us A service of the Hemophilia Genetic Conditions On this page: Reviewed March 2007 Hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition often experience prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases of hemophilia, heavy bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of hemophilia do not involve spontaneous bleeding, and the condition may only become apparent when abnormal bleeding occurs following surgery or a serious injury. The major types of this condition are hemophilia A (also known as classic hemophilia) and hemophilia B (also known as Christmas disease). Although the two types have very similar signs and symptoms, they are caused by mutations in different genes. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood, but have few bleeding problems after puberty. Another form of the disorder, acquired hemophilia, is not caused by inherited gene mutations. This rare condition is characterized by abnormal bleeding into the skin, muscles, or other soft tissues, usually beginning in adulthood.
World Federation Of Hemophilia
A global network of healthcare providers, national hemophilia associations, people with hemophilia and their families. Organization history, information
http://www.wfh.org/
Hemophilia: The Royal Disease - Case Study Collection - National Center For Case
hemophilia The Royal Disease by Yelena Aronova-Tiuntseva and Clyde Freeman Herreid, University at Buffalo, State University of New York.
http://www.sciencecases.org/hemo/hemo.asp

Extractions: University at Buffalo, State University of New York Hemophilia is an X-linked recessive disorder characterized by the inability to properly form blood clots. Until recently, hemophilia was untreatable, and only a few hemophiliacs survived to reproductive age because any small cut or internal hemorrhaging after even a minor bruise were fatal. Now hemophilia is treated with blood transfusions and infusions of a blood derived substance known as anti-hemophilic factor. However, such treatment is very expensive and involves the risk of contracting AIDS. Hemophilia affects males much more frequently (1 in 10,000) than females (1 in 100,000,000). This occurs because a critical blood clotting gene is carried on the X chromosome. Since males only carry one X chromosome, if that is defective, hemophilia will immediately show up. An early death is likely. Females, on the other hand, carry two X chromosomes. If only one is defective, the other normal X chromosome can compensate. The woman will have normal blood clotting; she will simply be a carri er of the recessive defective gene. This fact will be discovered if some of her children are hemophiliacs. Naturally, women hemophiliacs are rare because it takes two defective X chromosomes in order for the condition to be seen. Within a few months of his birth, his parents realized that their precious and only son, Alexis, had hemophilia. The first sign had been some unexpected bleeding from the navel, which had stopped after a few days. Much more serious, however, were the dark swellings that appeared each time the child bumped an arm or a leg. And worst of all was the bleeding into the joints. This meant a crippling of the affected limbs in addition to excruciating pain. As the boy grew older, he was obliged to spend weeks in bed, and after he was up, to wear a heavy iron brace.
Hemophilia - Signs And Symptoms
hemophilia is caused by a genetic mutation, which is a change in the gene for factor VIII or factor IX. This occurs on the X chromosome that contains
http://www.ucsfhealth.org/childrens/medical_services/cancer/hemophilia/condition

Extractions: Treatment Signs and Symptoms Hemophilia is caused by a genetic mutation, which is a change in the gene for factor VIII or factor IX. This occurs on the X chromosome that contains genetic information in human cells. If there is a family history of hemophilia, the mother is a carrier and her son will have the type of hemophilia as her relatives. If there is no family history of hemophilia, the child's hemophilia is due to a new mutation and the mother may or may not be a carrier. Hemophilia may occur in mild, moderate and severe forms, based on both clinical symptoms and the level or amount of clotting factor in the blood. An individual with mild hemophilia has 6 percent to 49 percent factor level and usually has problems with bleeding only after serious injury, trauma or surgery. In many cases, mild hemophilia is not discovered until a major injury, surgery or tooth extraction results in unusual bleeding. The first episode may not occur until adulthood. An individual with moderate hemophilia has 1 percent to 5 percent factor level and has bleeding episodes after injuries, major trauma or surgery. He also may experience occasional bleeding without obvious cause. These are called spontaneous bleeding episodes.
Hemophilia Village | Hemophilia Information, Hemophilia Treatments & Resources
hemophilia Village, a site for the hemophilia community. Learn about hemophilia treatments for hemophilia A B.
http://www.hemophiliavillage.com/

Extractions: Hemophilia Village is here for the hemophilia community: people with hemophilia A or hemophilia B and the people who care for them. In Hemophilia Village you can learn about hemophilia and hemophilia treatment , including two recombinant clotting factors: ReFacto for hemophilia A and BeneFIX for hemophilia B. Find out about viral safety, prevention, programs, services, and more. Indication BeneFIX is indicated for the control and prevention of hemorrhagic episodes in patients with hemophilia B (congenital factor IX deficiency or Christmas disease), including control and prevention of bleeding in surgical settings. BeneFIX is not indicated for the treatment of other factor deficiencies (eg, factors II, VII, VIII and X) nor the treatment of hemophilia A patients with inhibitors to factor VIII, nor the reversal of coumarin-induced anticoagulation, nor the treatment of bleeding due to low levels of liver-dependent coagulation factors. Important Safety Information As with the intravenous administration of any protein product, common adverse reactions may include headache, fever, chills, flushing, nausea, vomiting, or tiredness. BeneFIX may be contraindicated in patients with a known history of hypersensitivity to hamster protein.
Hemophilia - Symptoms, Treatment And Prevention
In hemophilia, one of the factors required for the clotting sequence is deficient or absent. The condition known as hemophilia has been recognized for
http://www.healthscout.com/ency/68/652/main.html

Extractions: OAS_listpos = "PageCount,AdOps1"; OAS_AD("PageCount"); loadcss('http://www.healthcentral.com/common/styles/ie/ie_healthscout_smallsearchbox.css', 'http://www.healthcentral.com/common/styles/nn/nn_healthscout_smallsearchbox.css'); Search Web Site Medline Get our free newsletter Special Offers TV Specials Learn about an Effective Alzheimer's Medication Bipolar Education Health Center Heart Valve Disease Health Center Osteoarthritis of the Knee Solution Center ... Schizophrenia Education Center Top Features Depression Schizophrenia Breast Cancer Bipolar Resources Healthscout News 3D Health Animations Health Videos Health Encyclopedia ... Drug Library Find a Therapist Enter City or Zip Code: Channels Home Today Women Men ... Drug Checker From Healthscout's partner site on cholesterol , CholesterolNetwork.com VIDEO: Open Arteries with a Cancer Drug ONLINE TEST: Take our Home Body Fat Test! QUIZ: Recommended Daily Calories and Fat A ... Y Related Encyclopedia Anemia Autologous Blood Donation Bone Marrow Transplantation End-stage Renal Disease ... More...
EMedicine - Hemophilia, Type A : Article By Brendan R Furlong, MD
hemophilia, Type A hemophilia A is an inherited, X-linked, recessive disorder resulting in deficiency of functional plasma coagulation factor VIII.
http://www.emedicine.com/emerg/topic239.htm

Extractions: All Sources eMedicine Medscape Drug Reference MEDLINE You are in: eMedicine Specialties Emergency Medicine Hematology And Oncology Last Updated: January 11, 2007 Email to a Colleague Synonyms and related keywords: hemophilia type A, hemophilia A, deficiency of functional plasma coagulation factor VIII, factor VIII deficiency, dysfunctional factor VIII, factor VIII inhibitors, disruption of the normal intrinsic coagulation cascade AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Brendan R Furlong, MD , Clinical Chief, Department of Emergency Medicine, Georgetown University Hospital Coauthor(s): Mary A Furlong, MD , Assistant Professor, Department of Pathology, Georgetown University School of Medicine Brendan R Furlong, MD, is a member of the following medical societies: American College of Emergency Physicians Editor(s): William Gossman, MD , Assistant Professor, Department of Emergency Medicine, Rosalind Franklin University of Medicine and Science, Project Medical Director, Department of Emergency Medicine, Mount Sinai Hospital; Francisco Talavera, PharmD, PhD
InteliHealth:
hemophilia is an inherited (genetic) disorder that prevents blood from clotting properly. In severe cases, people with hemophilia can bleed to death.
http://www.intelihealth.com/IH/ihtIH/WSIHW000/9339/10115.html

Extractions: Hemophilia What Is It? Symptoms Diagnosis Expected Duration ... Additional Info What Is It? Hemophilia is an inherited (genetic) disorder that prevents blood from clotting properly. Clotting means the blood thickens or congeals to form a scab, which keeps a cut from bleeding endlessly. People with hemophilia bleed longer than usual. This bleeding can range from mild to severe. In severe cases, people with hemophilia can bleed to death.
Your Online Hemophilia Resource | Thereforyou.com
hemophilia Galaxy provides patients, family members, and healthcare professionals with a galaxy of current hemophilia information.
http://www.hemophiliagalaxy.com/

Extractions: @import url("/css/screen.css"); Home Go Visitor Type: Patient Visitor Type: Caregiver Visitor Type: Healthcare Professional Thereforyou.com was created to reflect everything weâve heard from you. Itâs specially designed to keep you up-to-date on the latest Baxter therapies, programs and services. And when you register with us, you can also receive quarterly mailings and e-mail updates with valuable information based on your individual needs. So you not only stay informed, you also have the peace of mind of knowing that we are there for you when you need us. These fun events feature educational speakers to answer questions and discuss important issues for people with hemophilia and their caregivers. learn more Inspires participants 15-20 years old to explore future careers, education and opportunities in planning for the future. learn more Through graphic novel story telling, this kit brings daily social challenges to life and provides teens and young adults the tools to transition and cope. learn more Find help in your area quickly and easily when you enter your state.
Hemophilia, Hereditary Blood Disorders, DD, NCBDDD, CDC
hemophilia is an inherited bleeding disorder that affects 18000 persons (primarily males) in the United States. The disorder results from deficiencies in
http://www.cdc.gov/ncbddd/hbd/hemophilia.htm

Extractions: Hemophilia Hemophilia is an inherited bleeding disorder that affects 18,000 persons (primarily males) in the United States. The disorder results from deficiencies in blood clotting factors and can lead to spontaneous internal bleeding and bleeding following injuries or surgery. These bleeding episodes can cause severe joint damage, neurological damage, damage to other organ systems involved in the hemorrhage, and, in rare cases, death. Treating the bleeding episodes involves the prompt and proper use of clotting factor concentrates. von Willebrand disease The most common bleeding disorder is von Willebrand disease (vWD), which is found in approximately 1-2% of the U.S. population. VWD results from a deficiency or defect in the body's ability to make von Willebrand factor, a protein that helps blood clot. Although VWD occurs in men and women equally, women are more likely to notice the symptoms because of heavy or abnormal bleeding during their menstrual periods and after childbirth. Prevention activities CDC helps support a network of
Hemophilia
hemophilia is an inherited bleeding, or coagulation, disorder.
http://www.umm.edu/blood/hemophil.htm

Extractions: One of nation's top hospitals for safety and quality Bleeding Disorders Hemophilia Thrombocytopenia What is hemophilia? Hemophilia is an inherited bleeding, or coagulation, disorder. Persons with hemophilia lack the ability to stop bleeding because of the low levels, or complete absence, of specific proteins, called "factors," in their blood that are necessary for clotting. Proper clotting of blood helps prevent excessive bleeding. There are several types of hemophilias, but the most common and well known include the following: In the US, there are about 20,000 persons who have hemophilia, and each year approximately 400 babies are born with the disease. What causes hemophilia? Hemophilia types A and B are inherited diseases passed on from a gene located on the X chromosome. Females have two X chromosomes, while males have one X and one Y chromosome. A female carrier of hemophilia has the hemophilia gene on one of her X chromosomes, and there is a 50 percent chance that she may pass the defective gene to her male offspring. Males who inherit the defective gene will develop hemophilia. Males with hemophilia do not pass the gene to their sons; however, they do pass the gene to their daughters.
Hemophilia
There is no cure for hemophilia, but treatments and selfcare regimes are available which result in most patients being able to live active productive lives
http://www.genetic-diseases.net/hemophilia-syndrome/

Extractions: Everything about the Genetic diseases Hemophelia is a genetic disorder affecting the bloods ability to clot. Blood clotting is a necessary function of the body and occurs when blood turns from a liquid to a solid to stop bleeding. There are three specific types of haemophilia and each will result in prolonged bleeding. Small exterior cuts and abrasions are not a major issue for hemophiliacs but internal bleeding or bleeding into joints can cause serious health issues â even death. There is no cure for hemophilia, but treatments and self-care regimes are available which result in most patients being able to live active productive lives. The symptoms of hemophilia will vary depending upon the patientâs blood clotting ability. If the patient has only a minor deficit in blood clotting factors they may only be at risk of bleeding after a trauma or surgery. People with a high deficit of clotting factors however are at risk of spontaneous or unexplained bleeding. Spontaneous bleeding can consist of symptoms like nosebleeds with no obvious cause, unexplained bruising or bleeding, blood in the urine or stools, joint swelling, tightness or pain caused by internal bleeding and of course prolonged bleeding after a cut, abrasion or injury.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

1-20 of 81 1 | 2 | 3 | 4 | 5 | Next 20