The Hemophilia Terms you Need to Know

Hemophilia is a highly uncommon genetic blood disorder that inhibits the body from producing clot proteins that are needed to stop bleeding. Given the genetic nature of the disease, medical professionals use terms from a highly specialized medical lexicon. Here are some hemophilia terms more frequently used when discussing the disorder.


Human blood contains more than 20 varieties of clotting factors, which are all proteins essential for the clotting process. Hemophiliacs lack clotting factors VII or VIII, specifically, resulting in symptoms like prolonged and unexpected bleeding. Hemophilia varies in severity, with mild cases potentially having nearly 50% of functioning clotting factors, while more severe cases having less than 1%.


Given the genetic nature of the disorder, gene therapy attempts to treat or replace malfunctioning genes. Currently, in its experimental phase, no gene therapy system has yet been proven effective in the long-term. Although research is promising, positive results tend to disappear a few days following treatment.


A proven therapy for improving blood clotting capacity in hemophiliacs involves intravenous injections and currently exists in two varieties. First, plasma-derived factors are extracted from human plasma samples, which are then screened for impurities and then sterilized. Second, recombinant concentrates are entirely synthesized in the laboratory by taking the human DNA specific to healthy clotting factors and then injecting them into animal cells. Those cells are replicated until clotting factors are ready for extraction.


Prophylaxis represents one method of injecting replacement clotting factors. Those affected with moderate to severe forms of hemophilia sometimes use this method on a weekly (and sometimes daily) basis. Mild forms of hemophilia can be treated by injecting replacement clotting factors on an as-needed basis, such as after prolonged bleeding due to an injury. Although injections are often costly, they provide an effective means of improving clotting functionality before bleeding even begins. Injections can also prevent permanent joint damage by reducing blood build-up in joint cavities.


Although factor replacement injections are widely successful in improving the body’s ability to clot, in some cases the body will reject those injections, interpreting them as a foreign threat, with the immune system sending antibodies in counteraction. Treating inhibitors can be costly and complex, however, they are typically temporary.                   


Internal bleeding, which can be life-threatening, involves blood collecting in spaces internal to the body, potentially putting pressure on other organs and causing them to fail. Factor replacement injections, as well as the avoidance of physically risky activities, are perhaps the best ways for hemophiliacs to avoid internal bleeding.

Featured Image: Depositphotos/© iqoncept

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