Communication between the patients private physician and the hemophilia. Inherited as an xlinked recessive disease, hemophilia a is the most common hemophilia, occurring in approximately 1 in 10,000 male births. Hemophilia a is a deficiency of clotting factor viii, also known as antihemoplytic factorantihemophilic factor ahf or globulin ahgantihemophilic factor a, produced in the endothelium lining blood vessels hemophilia b is a deficiency of clotting factor ix, also called christmas factor plasma thromboplastin component ptc antihemophilic factor b. Factor viii serves as a cofactor in the activation of factor x to xa in a reaction referred to as the tenase complex. The disorder is clinically heterogeneous with variable severity, depending on the plasma levels of coagulation factor viii. Each type is directly related to a specific factor, namely, hemophilia a is a factor viii deficiency, hemophilia b is a factor ix deficiency and hemophilia c is a factor xi deficiency. Hemophilia is a genetic disease caused by inheritance of a mutated gene on the mothers x chromosome. Replacement of the specific missing plasma protein is necessary for hemostasis to occur. The hemophilia gene is passed down from a parent to a child. The two most common types of hemophilia are hemophilia a and hemophilia b. It happens due to an abnormality in your immune system like in rheumatoid arthritis or lupus. This is hemophilia a classic hemophilia and is the most common type. In general term hemophilia describes a group of inherited blood disorders in which there is a life long defect in the clotting mechanism of the blood. You can have a factor level between 50% and 200% and still be considered normal.
In a person with hemophilia, the clotting factor level is much lower than the standard. Disorder happens in the intrinsic hemostasis pathway, in which there is a deficiency or defect of. Hemophilia is a rare disorder in which the blood does not clot normally. Remember that people with hemophilia bleed longer because they cant make a fibrin clot. Hemophilia a and hemophilia b are inherited conditions and considered rare diseases by the national institutes of health. If you have hemophilia, you have little or no clotting factor.
Hemophilia is a general term for a group of rare bleeding disorders caused by congenital deficiency of certain clotting factors. Hemophilia c deficiency of factor xi was described first in two sisters and a maternal uncle of an american jewish family. Though hemophilia can be from a new genetic mutation, it most often runs in families. It affects mostly males, as it is an x chromosome linked condition. Hemophilia hemophilia a and b are genetic disorders of clotting factors viii and ix, respectively. It cannot be caught or transmitted in any other way. Knowing which type of bleeding disorder a person has is necessary to ensure effective treatment. People with hemophilia a, also called classic hemophilia, have a deficiency in clotting factor viii, meaning that clotting factor viii is either missing or is present at a low level. A third, rarer form of the disease is called hemophilia c. Acquired hemophilia is a disorder that is not present at birth, but develops suddenly at some point in your life. Antihemophilic factor ahf is a protein found in normal plasma which is necessary for clot formation. Diagnosis hemofilia alexander edo tondas alumni fakultas kedokteran universitas sriwijaya, palembang abstract hemophilia is a hereditaty coagulation disorder which is inherited as an xlink recessive trait.
Hemophilia is a bleeding disorder caused by a lack of blood clotting. The two most common types of hemophilia are factor viii deficiency hemophilia a and factor ix deficiency hemophilia b, or christmas disease. Hemophilia c is an autosomal inherited form of the disease, meaning that it affects males and females equally. From diagnosis to therapy giridhara rao jayandharan, ph.
The one you have depends on which of the clotting factor proteins you are missing. Clotting factor is a protein needed for normal blood clotting. This team devises a coordinated care plan for the patient and relies on his private physician for followup. Hemophilia a is referred to as classic hemophilia and was first recognized in the second century ad. In a person with normal amounts of clotting factors, when bleeding starts, all of the clotting factors work together to form a clot that stops the bleeding. Hemofil m antihemophilic factor human, method m, monoclonal purified nanofiltered description. A rare disease is one that affects fewer than 200,000 individuals in the united. In some cases, hemophilia types are also defined by what causes the bleeding disorder. Nonfactor treatment people with bleeding disorders have unique health concerns that often require other types of treatment. Your healthcare provider should discuss the risks and explain the signs and symptoms of blood clots to you. Without it, you may bleed for a long time after an injury or accident. At this time, there is no way to prevent hemophilia in someone who inherits a defective gene and thus produces too little clotting factor. Hemophilia a, also called factor viii fviii deficiency or classic hemophilia, is a genetic disorder caused by missing or defective factor viii, a clotting protein.
Hemophilia a definition nci an inherited deficiency of coagulation factor viii characterized by the tendency to spontaneous or exaggerated posttraumatic hemorrhage. Haemophilia is a rare inherited disorder of the bodys blood clotting mechanism. In this section, we address several treatments that you may encounter as you manage your overall health. In these cases, there is no previous history of hemophilia in the family. Hemophilia is a genetic disorder, which is typically inherited.
While inhibitors in people with hemophilia b are less common than hemophilia a, it can be even more challenging as about half of hemophilia b inhibitor patients will develop an anaphylactic reaction to infused factor ix, which can be lifethreatening. Effective treatment for people with acquired hemophilia. Some people with hemophilia lack a protein called factor viii 8. All three bled after dental extractions, and the sisters also bled after tonsillectomy. Hemophilia a is the most common form of hemophilia, occurring in about 1 in every 10,000 males. Hemophilia a is an xlinked recessive bleeding disorder caused by a deficiency in the activity of coagulation factor viii. The disorder can be mild, moderate or severe, depending on the level of clotting factor. Severity levels hemophilia the basics hog handbook. Hemofil m, antihemophilic factor human ahf, method m, monoclonal purified, is a sterile, nonpyrogenic, dried preparation of antihemophilic factor factor viii, factor viii. Even in severe deficiency of factor xi, the bleeding tendency is mild. Current prenatal diagnostic methods such as chorionic villus sampling and amniocentesis are invasive and present an approximately 1% risk of miscarriage. Everyone with hemophilia should know their clotting factor level. Bleeding occurs only with significant trauma or major surgery. A hemophilic person does not bleed more profusely or bleed faster than normal he simply bleeds longer unless treated.
Hemophilia inhibitors hemophilia federation of america. In the developing world many people affected by this. The disease is an xlinked recessive bleeding disorder caused by defects in the clotting cascade enzyme factor viii. Fviii and fix are either defective or made in insufficient amounts, resulting in impaired secondary hemostasis. The two main types of hemophilia are a and b, according to the national hemophilia foundation. They lack certain factor proteins needed to form the clot. About one third of new cases are caused by a new mutation of the gene in the mother or the child. Efficient aav1aav2 hybrid vector for gene therapy of hemophilia. Some signs of a blood clot may include pain, swelling, warmth, redness, or a lump in your legs or arms, chest. Normally, the immune system helps to protect the body from viruses and germs. Approximately 23% of people with hemophilia b develop inhibitors. Congenital hemophilia is an inherited bleeding disorder characterized by an absent or reduced level of clotting factor viii 8 or factor ix 9. Hemofil m is approved by the food and drug administration fda to control and prevent bleeding episodes in people with factor viii deficiency due to hemophilia a. In most types, severity is based on the level of clotting.
Hemophilia a classic hemophiliaaccounts for 80% of all hemophilia 1 in 5,000 males, caused by too little factor viii. C, ahf in concentrated form with a specific activity range of 2 to 20. Fviii and fix are either defective or made in insufficient amounts, resulting in. Hemophilia b is an inherited, xlinked, recessive disorder resulting in deficiency of functional plasma coagulation factor ix. When a germ enters the body, the immune system sees it as. Treatment of hemophilia a and b marianne mcdaniel, rn introduction treatment for patients with hemophilia and other bleeding disorders has evolved over the past several decades. Hemofil m fda prescribing information, side effects and uses. This chart shows the three degrees of severity based on the factor level. The technical name of hemofil m is antihemophilic factor human, method m, monoclonal purified. The administration of hemofil m provides an increase in plasma levels of ahf and can temporarily correct the coagulation defect of patients with hemophilia a classical hemophilia. These guidelines were originally published by blackwell publishing in haemophilia. Combinations of factor viii concentrates and alkylating agents have met with variable success in the treatment of hemophiliacs having inhibitors of factor viii.
In rare cases, hemophilia a can be acquired during life acquired hemophilia a as a result of an autoantibody to factor viii. Spontaneous mutation and acquired immunologic processes can result in this disorder as well. Bleeding disorders are genetic conditions unless otherwise specified. Hemophilia a nord national organization for rare disorders. Hemophilia is very rare only about 20,000 americans have the disorder. It is caused by low amounts of specific clotting factors. Congenital hemophilia a and b rare bleeding disorders. Hemophilia a and b are more common in males than females because of genetic transmission. Although it is passed down from parents to children, about of cases are caused by a.
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