Hemophilia

Excerpt

Hemophilia, which means love (philia) of blood (hemo), is the most common severe hereditary hemorrhagic disorder. Both hemophilia A and B result from factor VIII and factor IX protein deficiency or dysfunction, respectively, and is characterized by prolonged and excessive bleeding after minor trauma or sometimes even spontaneously. There is hemophilia C as well, which occurs due to deficiency of clotting factor XI but is rare. Sometimes acquired hemophilia can present related to age or childbirth and usually resolves with appropriate treatment. Hemophilia has often been called “the disease of the kings,” as is often described in the descent of Queen Victoria of England. The earliest description in ancient history dates from the second century AD in the Babylonian Talmud about a woman who had lost her first two sons from circumcision. The earliest description in modern history was documented by the American physician Dr. John Conrad Otto. Dr. Conrad described an inheritable bleeding disorder in several families where only males born from unaffected mothers were affected. He then called them the “bleeders.” Hemophilia, as a word, was first documented by Johann Lukas Schönlein in his dissertation at the University of Zurich, Switzerland. Dr. Nasse was the first to publish the genetic description of hemophilia in Nasse’s Law: which states that hemophilia is transmitted entirely by unaffected females to their sons.