Hemophilia B occurs in approximately 1 in 20, newborn males worldwide. Changes in the F8 gene are responsible for hemophilia A, while mutations in the F9 gene cause hemophilia B. A related protein, coagulation factor IX, is produced from the F9 gene.
Coagulation factors are proteins that work together in the blood clotting process. After an injury, blood clots protect the body by sealing off damaged blood vessels and preventing excessive blood loss. Mutations in the F8 or F9 gene lead to the production of an abnormal version of coagulation factor VIII or coagulation factor IX, or reduce the amount of one of these proteins. The altered or missing protein cannot participate effectively in the blood clotting process.
As a result, blood clots cannot form properly in response to injury. These problems with blood clotting lead to continuous bleeding that can be difficult to control. The mutations that cause severe hemophilia almost completely eliminate the activity of coagulation factor VIII or coagulation factor IX.
The mutations responsible for mild and moderate hemophilia reduce but do not eliminate the activity of one of these proteins. Another form of the disorder, known as 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. Acquired hemophilia results when the body makes specialized proteins called autoantibodies that attack and disable coagulation factor VIII. The production of autoantibodies is sometimes associated with pregnancy, immune system disorders, cancer, or allergic reactions to certain drugs.
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How many people have hemophilia A in the US? Per , males in the US. Boys born with hemophilia A each year, approximately. What Is Hemophilia A? The Genetics of Hemophilia Hemophilia A is an inheritable disease, meaning it is passed down from parents to children. Although the specific cause of acquired hemophilia remains unknown, it is sometimes associated with other illnesses usually immune disorders or cancer , allergic reactions to certain medications, or pregnancy.
Hemophilia News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment.
This content is not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.
Never disregard professional medical advice or delay in seeking it because of something you have read on this website. Envelope icon Subscribe to our newsletter Get regular updates to your inbox. Your Email. Causes of Hemophilia. Symptoms of having a bleeding tendency may include: bruising easily heavy menstrual bleeding, which may lead to low iron levels or anaemia excessive bleeding after dental surgery or extractions, other surgery and medical procedures, injuries or accidents prolonged bleeding after childbirth joint or muscle bleeds in females with very low clotting factor levels.
How is haemophilia treated? The team includes: haematologists: doctors who specialise in blood disorders haemophilia nurses social workers or counsellors physiotherapists other specialist health professionals.
Products for treating haemophilia There are a variety of treatment products used to treat haemophilia. It can be given as a slow injection into a vein; as an injection into the fatty tissue under the skin; or as a nasal spray. Desmopressin is not suitable for everyone. They can be given on demand or as a preventative measure. There are two types — recombinant factor concentrate and plasma-derived factor concentrate: recombinant factor concentrate is the most widely used type of clotting factor concentrate.
It is made by genetic engineering and contains little or no material from human blood or animals plasma-derived factor concentrate is made from the plasma pale yellow fluid part in human blood and is produced from blood donations. It is used when desmopressin is not suitable, or when it is likely the person will need treatment for more than two to three days.
It is injected into a vein in the arm tranexamic acid is a medicine that stops blood clots being dissolved once they have formed. It can help to treat mouth or nosebleeds, gut bleeding or bleeding after dental work.
Most commonly it is taken as tablets, syrup or in a mouthwash. It can be applied directly onto a wound to stop bleeding hormone treatment, such as oral contraceptives birth control pills , can help women who have heavy menstrual bleeding.
The hormones can increase factor VIII levels. How often do people need treatment? Haemophilia and planning a family For people with haemophilia or women who carry the gene, planning a family can raise a number of questions, such as: Will my children have haemophilia or carry the gene? And if so, how will this affect them? What are my options for planning a family? How can a mother who carries the gene plan for a safe pregnancy and delivery?
Who will help with all of this? It may also be helpful to speak to a genetic counsellor. Haemophilia, pregnancy and childbirth With good management, women who carry the altered gene causing haemophilia have no more problems with delivering a healthy baby than other mothers. This involves: ideally, if you are planning a pregnancy, talk to a haemophilia specialist, who may refer you to a genetic counsellor if a pregnancy is confirmed, contact your haemophilia treatment centre for advice on local obstetric services with experience of haemophilia ask your haemophilia and obstetrics teams to consult with each other to plan for a smooth and safe pregnancy and delivery and care for your newborn check with your haemophilia treatment centre before having any invasive procedures, such as chorionic villus sampling or amniocentesis discuss suitable choices for anaesthesia, especially an epidural, with your haemophilia treatment centre and obstetrics teams.
A normal vaginal delivery is usually recommended unless there are obstetric complications. Identifying the sex of the baby If you are pregnant and you know you carry the gene change causing haemophilia, it is recommended that you find out the sex of the baby before birth, preferably with a non-invasive test with minimal risk to the foetus, such as an ultrasound or prenatal screening test.
Travel and haemophilia Everyone has individual needs when travelling. They can: help with preparations tailored to your situation advise on documentation, medication and travel insurance — for example, documentation to carry medication and treatment equipment through security and customs may be required advise you on what to do if you need treatment while travelling provide you with contact details of haemophilia treatment services along your route or at your destination in case of an emergency.
Be sure to get travel insurance for overseas travel. You may also consider telling travelling companions what to do to help in case of an emergency. Physical activity and haemophilia Physical activity is good for everyone.
Some ideas include: swimming or hydrotherapy gym-based programs Wii Fit rock climbing with a safety rope! Medical identification tags for haemophilia People with haemophilia are advised to wear a Medical ID tag. Support for people and families living with haemophilia Haemophilia treatment centres provide treatment and support for people living with haemophilia and their families.
Give feedback about this page. Was this page helpful? Yes No. View all blood and blood vessels. Related information. Support groups Haemophilia Foundation Victoria. From other websites Genetic Support Network victoria. Haemophilia Foundation Victoria. Content disclaimer Content on this website is provided for information purposes only.
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