question:  Hemophilia A Hemophilia, classic HEM A Classic hemophilia Hemophilia, classic HEM A Classic hemophilia Factor 8 deficiency Factor VIII deficiency Classical hemophilia Haemophilia A Hemophilia A, congenital See More Summary Hemophilia A is an inherited bleeding disorder in which the blood does not clot normally. [1] [2] [3] People with hemophilia A will bleed more than normal after an injury, surgery, or dental procedure. This disorder can be severe, moderate, or mild. In severe cases, heavy bleeding occurs after minor injury or even when there is no injury (spontaneous bleeding). Bleeding into the joints, muscles, brain, or organs can cause pain and other serious complications. In milder forms, there is no spontaneous bleeding, and the disorder might only be diagnosed after a surgery or serious injury. Hemophilia A is caused by having low levels of a protein called factor VIII. Factor VIII is needed to form blood clots. The disorder is inherited in an X-linked recessive manner and is caused by changes ( mutations ) in the F8 gene. [1] [2] The diagnosis of hemophilia A is made through clinical symptoms and specific laboratory tests to measure the amount of clotting factors in the blood. The main treatment is replacement therapy, during which clotting factor VIII is dripped or injected slowly into a vein. [2] [3] Hemophilia A mainly affects males. With treatment, most people with this disorder do well. Some people with severe hemophilia A may have a shortened lifespan due to the presence of other health conditions and rare complications of the disorder. [3] Symptoms The symptoms of hemophilia A and the age symptoms appear vary depending on the amount of factor VIII a person's body makes. Infants with the severe form may bleed abnormally from their mouth and develop 'goose eggs' on their heads (collections of blood under the scalp). Other symptoms of the severe form include bleeding without any known cause (spontaneous bleeding) into the muscles, joints, and organs . Children with the moderate form may bruise easily and bleed too much after minor injuries, dental work, or surgery. People with the mild form of hemophilia A may not be diagnosed until they bleed more than normal after a major injury or surgery. With the mild form, there are no episodes of spontaneous bleeds. [1] [2] This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom. Showing of Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Arthralgia Joint pain 0002829 Bleeding with minor or no trauma Easy bleeding 0011889 Joint swelling 0001386 Reduced factor VIII activity 0003125 30%-79% of people have these symptoms Oral cavity bleeding Bleeding from mouth 0030140 Spontaneous hematomas 0007420 Thromboembolism 0001907 5%-29% of people have these symptoms Abnormality of the elbow Abnormality of the elbows 0009811 Gastrointestinal hemorrhage Gastrointestinal bleeding 0002239 Intramuscular hematoma 0012233 Intraventricular hemorrhage 0030746 Joint hemorrhage Bleeding within a joint Hemarthrosis 0005261 1%-4% of people have these symptoms Splenic rupture Ruptured spleen 0012223 Percent of people who have these symptoms is not available through HPO Bruising susceptibility Bruise easily Easy bruisability Easy bruising 0000978 Osteoarthritis Degenerative joint disease 0002758 Persistent bleeding after trauma Excessive bleeding after minor trauma Frequent bleeding with trauma Prolonged bleeding after minor trauma 0001934 Prolonged partial thromboplastin time 0003645 X-linked recessive inheritance 0001419 Showing of Cause Hemophilia A is caused by genetic changes ( mutations ) in the F8 gene. This gene is responsible for making the Factor VIII protein , an important protein that helps start the formation of blood clots. Mutations in the F8 gene lead to reduced or absent levels of Factor VIII in the blood, making it hard for the body to form blood clots. [1] [2] Inheritance The F8 gene is located on the X- chromosome . Therefore, hemophilia A is inherited in an X-linked recessive pattern. [1] [2] In males (who have only one X chromosome ), one mutated copy of the F8 gene in each cell is enough to cause hemophilia A. In females (who have two X chromosomes), a mutation needs to occur in both copies of the F8 gene to cause the disorder. Because it is unlikely that females will have two mutated copies of this gene, hemophilia A, like other X-linked recessive disorders, affects males much more frequently than females. Females who have a mutation in one copy of the F8 gene are called carriers . Most carriers have no signs or symptoms, however about 10% of female carriers of hemophilia A will experience some abnormal bleeding. [2] A female who carries one F8 gene mutation has a 50% or 1 in 2 chance of having a son with hemophilia A. A male with hemophilia A cannot pass on the disorder to his sons, but all of his daughters will be carriers for hemophilia A. [1] When a male child is the first person in a family with hemophilia A, further testing may be needed to determine if the child inherited the disorder from his mother, or if the mutation occurred by chance for the first time in the child. [2] Diagnosis The diagnosis of hemophilia A is made through the clinical symptoms and confirmed by laboratory testing. Blood tests are done to measure the time it takes the blood to clot and the amount of clotting factors found in the blood. [4] Genetic testing can also help determine the exact change in the F8 gene and can be helpful for identifying other family members at risk for hemophilia A. [2] Testing Resources The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Treatment People with inherited hemophilia A require life-long care, preferably through a specialized hemophilia treatment center. [2] [4] These centers are located around the United States and can be found through the Centers for Disease Control and Prevention. The National Hemophilia Foundation has links to management and treatment guidelines. There is no cure for hemophilia A, but current treatments can prevent many of the symptoms of hemophilia A [4]. Treatment may include medications and replacing the missing clotting factor (replacement therapy). This type of replacement therapy is done by slowing injecting or dripping concentrated factor VIII into a vein (intravenous infusion). The type and frequency of treatment often depends on the severity of the disorder in each person. [2] [5] People with mild or moderate hemophilia A may be treated with replacement therapy as needed (for example, when a bleeding episode occurs). This is called 'on-demand' therapy. Some people with mild hemophilia A may be treated with desmopressin (DDAVP). [2] [4] Desmopressin raises the levels of factor VIII in the blood and may be given directly into a vein or through a nasal spray. Drugs known as antifibrinolytics, which slow the breakdown of clotting factors in the blood, can also be used to treat a mild form of the disorder. [4] Some people with severe hemophilia A may receive regular factor VIII replacement therapy to prevent bleeding episodes and other complications such as joint damage. This is referred to as prophylactic or preventative therapy. These factor VIII infusions may be done as often as necessary depending on the severity. [2] [4] The immune system of some people with the severe form of hemophilia A may start to make antibodies (inhibitors) that prevent the replacement factor VIII from working. [4] [5] Treatment for these people includes larger doses of replacement factor VIII and/or medications that may help block the inhibitors. [5] Infusions of replacement Factor VIII can be given at home. This is especially important for people with severe disease because the infusion works the best within one hour of a bleeding episode. In general, prompt treatment is important because it reduces pain and damage to the joints, muscles, or other affected tissues or organs . [4] FDA-Approved Treatments The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products. National Library of Medicine Drug Information Portal National Library of Medicine Drug Information Portal National Library of Medicine Drug Information Portal National Library of Medicine Drug Information Portal National Library of Medicine Drug Information Portal National Library of Medicine Drug Information Portal Medline Plus Health Information Prognosis Hemophilia A can be mild, moderate, or severe, depending on how much clotting factor VIII is in a person's blood. About 50-60% of people with hemophilia A have the severe form of the disorder. [4] With education and treatment, people with hemophilia A can live healthy and active lives. Life expectancy may depend on the response to treatment and the presence of other health conditions. Life-threatening complications of hemophilia A include bleeding within the skull (intracranial hemorrhage) and bleeding into the soft tissue around important organs . Chronic, debilitating joint disease may also develop. [4] Statistics About 1/5000 -1/6000 people in the US are born with hemophilia A. This disorder affects males more than females, and occurs equally in all races and ethnic groups. [4] [5] Find a Specialist If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. If you can't find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care. You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists. Healthcare Resources To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference. Related Diseases Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease. Conditions with similar signs and symptoms from Orphanet The differential diagnosis should include von Willebrand disease (see this term) and other coagulation anomalies leading to prolonged blood coagulation times. Visit the Orphanet disease page for more information. 