Hematology Question 34 Instructor

A 34 year old male is followed regularly for severe Hemophilia A. Points of discussion:

  1. What is hemophilia A and what are its grades of severity?
  2. Do the grades of severity correlate with the clinical phenotype?
  3. What is the standard of care for a patient with severe Hemophilia A?

Points of Discussion:

  • Hemophilia A is caused by a hereditary, X-linked, deficiency in coagulation factor VIII. The prevalence is approximately 1/5000 males born. Hemophilia A exhibit 3 levels of severity:
    • severe (FVIII activity levels <1%),
    • moderate (1-4.9%),
    • mild (>5%).
  • In general, the risk for bleeding is linked to the degree of severity. In severe cases, initial hemorrhaging occurs before the age of 1 year, and in moderate cases bleeding more commonly starts later, i.e. at 1 to 2 years of age. Bleeding is spontaneous or occurs after minimal trauma. In mild hemophilia, bleeding problems are often related to surgery and injuries. Therefore, mild hemophilia might be diagnosed late in life, in connection with surgery.
  • Modern hemophilia care should be centralized at bleeding disorders centers. These centers have treatment teams consisting of physicians (hematologists, rheumatologists, orthopedic surgeons), nurses, physiotherapists and social workers trained in bleeding disorders’ care. Primary prophylaxis with replacement of the missing FVIII coagulation factor was started in Sweden in 1958 and is now routinely begun in all children with severe hemophilia A. Primary prophylaxis is composed of regular, weight based, infusions of recombinant factor VIII products, starting at an early age, to prevent joint and muscle damage and future disability. In addition, early initiation of home treatment (self-infusion of recombinant factor VIII) is important for good quality of life and to halt bleeding quickly following possible injury or spontaneous bleeding.

Manco-Johnson MJ et al. Prophylaxis versus episodic treatment to prevent joint disease in boys with severe hemophilia. N Engl J Med 2007;357:535-44.

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