Overview
What is a rare bleeding disorder
There are a number of extremely rare bleeding disorders, including deficiencies of clotting Factors I, II, V, VII, X, XI, and XIII. Various recombinant and plasma-derived products are used to treat these disorders.
Factor XIII deficiency is the rarest Factor deficiency, occurring in 1 per 5 million births. It is inherited in an autosomal recessive fashion, meaning that both parents must carry the gene to pass it on to their children; it affects men and women equally.
Factor X deficiency is a rare bleeding disorder that affects about 1 per 1 million births. It is also inherited in an autosomal recessive fashion and affects men and women equally. Symptoms can range from easy bruising, nose or mouth bleeds to severe bleeding episodes such as joint bleeds, intramuscular bleeds and intracranial hemorrhage. Diagnosis is confirmed with a Factor X assay.
Afibrinogenemia (a Factor I deficiency) is a rare congenital disorder characterized by absence of protein in the blood that is essential in the blood clotting (coagulation) process. This protein is known as fibrinogen or coagulation Factor I. Affected individuals may be susceptible to severe bleeding (hemorrhaging) episodes, particularly during infancy and childhood. Congenital afibrinogenemia is thought to be transmitted as an autosomal recessive trait.
Hypofibrinogenemia (a Factor I deficiency) is one of two quantitative defects, meaning the amount of fibrinogen in the blood is abnormal. Hypofibrinogenemia is when there is a low level of fibrinogen. Many people who have hypofibrinogenemia do not need treatment.
For more information, visit our website dedicated to bleeding disorders at www.hemophilia.com.
Questions regarding your rare bleeding disorder therapy
You can reach the Accredo bleeding disorder care team, anytime, day or night, seven days a week.
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Symptoms
Most forms of hemophilia are passed through families (inherited) or result from problems with the genes (genetic material) that instruct the body to make the proteins that help blood to form clots. These proteins are known as “clotting Factor.” There are 13 different types of clotting Factor. Different problems and symptoms can occur, depending upon which clotting Factor is absent.
For more information, visit our website dedicated to bleeding disorders at www.hemophilia.com.
Medications
The following specialty medications are available at Accredo, a specialty pharmacy for rare bleeding disorders.
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Meet the Team
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