|Hemophilia A (severity varies)|
||Hemophilia A (severity varies)
||Carrier of a Factor V deficiency mutation
||common in clinvar
This is a genotype with recommended actions if clinically confirmed. In brief:
- Hemophilia A (HEMA) and B (HEMB) are X-linked disorders that typically affect males while ~90% of females are unaffected carriers.
- Both disorders are characterized by deficiencies in coagulation factors that promote blood clotting, which results in abnormal bleeding. Disease severity is correlated with the level of factor VIII or IX clotting activity.
- Certain mutations in the F8 and F9 genes lead to HEMA and HEMB.
- Patients with hemophilia are best managed in a comprehensive care setting with a multidisciplinary team of healthcare professionals with experience in treating bleeding disorders.
- Female carriers may experience milder symptoms of abnormal bleeding.
- Women with HEMA or HEMB (not carriers) are at particular risk of bleeding complications during menstruation and childbirth. Menorrhagia is the most common bleeding symptom in women and may be the first or only presenting symptom.
- Prophylaxis with factor replacement is the main form of therapy in young patients with severe disease and prevents bleeding and joint destruction.
- Good oral hygiene is essential to prevent periodontal disease and dental caries, which predispose to gum bleeding.
- Recommended things to avoid include drugs that affect platelet function such as aspirin and NSAIDS, intramuscular injections, and high contact and collision sports.
The full ClinGen Actionability report about Hemophilia A (HEMA) and B (HEMB) can be found
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.