What are the names of genetic bleeding disorders?

From the Guidelines

Genetic bleeding disorders include hemophilia A, hemophilia B, von Willebrand disease, factor XI deficiency, factor VII deficiency, factor X deficiency, factor V deficiency, factor II deficiency, factor XIII deficiency, Glanzmann thrombasthenia, Bernard-Soulier syndrome, platelet storage pool disorders, and hereditary hemorrhagic telangiectasia. These conditions result from genetic mutations affecting proteins essential for blood clotting, as noted in a study published in the Journal of Thrombosis and Haemostasis 1. Hemophilia A and B are X-linked recessive disorders caused by deficiencies in factor VIII and factor IX respectively, primarily affecting males, with hemophilia A being more common than hemophilia B, accounting for about 80% to 85% of all hemophilia cases 1. Von Willebrand disease, the most common inherited bleeding disorder, affects both sexes equally and involves deficiency or dysfunction of von Willebrand factor, while the rare factor deficiencies (II, V, VII, X, XI, XIII) each involve specific clotting proteins, as discussed in a study on gene therapy for hemophilia A 1. Glanzmann thrombasthenia and Bernard-Soulier syndrome are platelet function disorders affecting platelet aggregation and adhesion, as mentioned in a guideline for the treatment of congenital hemophilia A and B 1. These disorders vary in severity from mild to severe bleeding tendencies, with symptoms ranging from easy bruising and prolonged bleeding from minor cuts to spontaneous internal hemorrhages, particularly in joints and muscles in severe cases, highlighting the importance of proper management and treatment, such as gene therapy, which has shown promise in reducing the risk of bleeding and improving quality of life for individuals with hemophilia A and B 1. It is essential to monitor patients with these disorders for liver disease, as they are at a higher risk of developing chronic liver disease and liver-related complications, such as hepatocellular carcinoma, due to the transmission of hepatitis B and C viruses through blood products, as noted in a study on the management of liver disease in people with congenital bleeding disorders 1. Overall, the management of genetic bleeding disorders requires a comprehensive approach, including prophylactic replacement therapy, gene therapy, and monitoring for liver disease, to reduce the risk of bleeding and improve quality of life for affected individuals. Key points to consider in the management of these disorders include:

• The use of prophylactic replacement therapy to prevent bleeding episodes
• The potential benefits and risks of gene therapy, including the risk of hepatotoxicity
• The importance of monitoring for liver disease and liver-related complications
• The need for a comprehensive approach to management, including regular follow-up and monitoring for potential complications.

From the FDA Drug Label

ADVATE is a medicine used to replace clotting factor (factor VIII or antihemophilic factor) that is missing in people with hemophilia A (also called "classic" hemophilia). Hemophilia A is an inherited bleeding disorder that prevents blood from clotting normally.

The names of genetic bleeding disorders mentioned are:

• Hemophilia A (also called "classic" hemophilia) Another genetic bleeding disorder mentioned, but not directly related to the drug, is:
• Von Willebrand disease 2

From the Research

Genetic Bleeding Disorders

• Hemophilia A, also known as factor VIII deficiency, is a genetic bleeding disorder characterized by deficiency of factors critical to the normal process of coagulation 3, 4, 5, 6.
• Hemophilia B, also known as factor IX deficiency, is another genetic bleeding disorder resulting from genetic mutations 3, 4, 5, 6.
• Von Willebrand disease (vWD) is the most common congenital bleeding disorder, which can predispose patients to life-threatening CNS complications 6, 7.

Characteristics and Management

• These genetic bleeding disorders are inherited and can cause episodes of hemorrhage, some spontaneous and some related to trauma or medical procedures 3, 4, 5, 6.
• The management of these disorders requires a comprehensive approach, including preventive treatment, replacement therapy with coagulation factors, and individualized dosing strategies 3, 4, 5, 6.
• The diagnosis and treatment of these disorders can be complex, and patients may require ongoing care and monitoring to prevent and manage bleeding episodes 3, 4, 5, 6, 7.