Categorized by mild, moderate, or severe, Hemophilia is the most common hereditary hemorrhagic disorder. Both Hemophilia A and B result from factor VIII and factor IX protein deficiency or dysfunction and is characterized by prolonged and excessive bleeding after minor trauma to the body. Along with Hemophilia A and B, is Hemophilia C, which occurs due to deficiency of clotting factor XI, but is the rarest of the three. Hemophilia has often been referred to as “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 written about a woman who had tragically 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, calling them the “bleeders.” Hemophilia, as a word, was first documented by Johann Lukas Schönlein on 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, also known as carriers. 

Both hemophilia A and B are inherited an X-linked recessive pattern where 100% of females born from affected fathers will be carriers, and none of the males born will be affected. Female carrier mothers have a 50% chance of birthing affected males and a 50% chance of birthing carrier females. However, males diagnosed with hemophilia cannot carry the disorder onto future generations, while female carriers can. Hemophilia is equally distributed among all ethnic groups worldwide. For every 10000 births, 1 is living with hemophilia, and the number of people worldwide living with hemophilia is about 400000. However, hemophilia A is more common (80% to 85% of the total hemophilia population) than hemophilia B. It presents in 1 in 5000 live male births, whereas hemophilia B presents in 1 in 30000 live male births. 

Tracy Caselli, a carrier for Hemophilia, has three sons, and two daughters. “Two of my sons inherited hemophilia, but my oldest just got lucky,” she said. “My brother has it too; I’m a carrier because my mom was one. I don’t know if my daughters are carriers or not.” Pregnant females are advised to talk to their obstetricians and genetic counselors if they have one child with hemophilia and are planning to have another child. Testing for hemophilia is sometimes by obtaining a blood sample from the umbilical cord or a vein of a newborn immediately after birth, and levels of clotting factors can be checked for patients with high suspicion for hemophilia or in those patients who have a significant family history of bleeding disorders. Gabriel Caselli, a 9-year-old boy diagnosed with hemophilia at birth says, “It’s not that bad because I only have a mild case, but it still stinks.” 

The hemophilia treatment strategy is primarily divided into two categories – management of acute bleeding and prophylaxis. Any patient with hemophilia who presents with severe acute bleeding episode requires quick recognition of the location and severity of the bleed; this must be followed by immediate replacement with high-dose clotting factor concentrate (CFC) with factor VIII or IX. Doses of factor concentrate should be 50 IU/kg body weight factor VIII or 100 to 120 IU/kg factor IX depending on the severity of the injury as prescribed by the hematologist. Apart from treating acute bleeding, another strategy of treatment in patients with hemophilia is prophylaxis prior to any invasive procedures. The prophylactic treatment has several advantages. It can reduce hemarthroses episodes and thereby reduce hemophilic arthropathy and the need for corrective joint surgeries. Prophylactic treatment can also reduce the frequency of cerebral and muscle bleeds and reduce the need for hospitalizations. It helps improve the quality of life for patients by allowing them to take less time off work and less frequent monitoring. Hemophilia is not a death sentence, as long as it is diagnosed it can be treated properly insuring hemophiliacs a long healthy life thanks to all of the up and coming treatments available.