Stephen Pemberton's The Bleeding Disease

Hemophilia - the hereditary lack of a blood clotting factor typically caused by a recessive X-linked genetic mutation - has been at the forefront of public attention for centuries due in part to its seemingly mysterious presentation almost exclusively in males and its prevalence among European and Russian royal dynasties due to inbreeding - but has only been the subject of serious medical study and treatment for the past two centuries. “Before the modern era, there was some recognition of the experience of familial bleeding… but there was still no formal knowledge of hemophilia within medical circles, still no pathology,” writes historian Stephen Pemberton in The Bleeding Disease (21).

The first writing referencing hemophilia is a Jewish

Genetically, traditional hereditary hemophilia can be categorized as type A or B depending on whether the eighth (FVIII) or ninth (FIX) blood clotting factors are affected, respectively. These factors are enzymes and other proteins that form the clotting response when a cut occurs. The exact type can be diagnosed by either blood testing, or in the case of carrier, genetic testing. Though hemophilia has varying severity levels depending on the degree of damage to the protein 's amino acid sequence, it does not progress or change in severity over time. Patients considered to be moderate cases have only 1-5% of the average working blood clotting factor they are deficient in, and severe cases have as little as 0.5-1% - such cases are extremely hard to manage even with modern

Often dubbed, “hemophilia C,” a hereditary Factor XI deficiency that interferes with thrombin production and affects both sexes has an average occurrence rate of 1:100,000 and usually only affects those with serious injuries or surgeries (Pemberton 81). An acquired form of hemophilia (AH) also exists - the presence of autoantibodies (antibodies that target internal tissue) against FVIII occurs once per roughly every 1.5 million (Lebegue 312). Approximately 50% of cases are idiopathic, and the disease carries a mortality between 8-22% (Ibid.). It is treated using bypassing factors, which target the antibody or inhibitor, and long-term treatment with immunosuppressive steroids like prednisone and cyclophosphamide - treatments also more commonly used to treat rejection of FFP or recombinant clotting