pathoscribe

Written by Jayne Thakur | Art by Anoushka Pandya

Hemophilia is a rare genetic disorder in which an affected individual is unable to clot their blood, which often means that a simple bruise may lead to catastrophic blood loss, usually internally.

Caused by the absence of clotting factors in the blood, hemophiliacs will experience different amounts of chronic bleeding, depending on the levels of their clotting factors. If the deficiency is mild, patients may only bleed after major surgery or trauma, but if it’s severe, patients can bleed easily for even the mildest reasons.

Clotting factors are proteins in the blood that work together with platelets to form blood clots and prevent excessive bleeding. When specific clotting factors are missing or low, an individual will be diagnosed as hemophiliac.

In some extreme cases, individuals may end up bleeding in the brain following a slight bump to the head. If one is a diagnosed hemophiliac, it is important to keep an eye out for indications that they may have a brain bleed, before it gets too critical. Headaches, vomiting, lethargy, vision issues, seizures, etc. are all signs that someone with a bleeding brain may present.

Other dangerous situations include internal bleeding within the muscle, bleeding into the throat or neck, joint damage (due to pressure caused by internal bleeding), or infection.

Hemophiliacs may experience rather casual symptoms, but if prolonged and not taken seriously, they can result in severe health issues. Individuals may notice excessive bleeding from cuts and injuries, a large amount of deep or large bruises, prolonged bleeding following vaccinations, tightness in joints, blood in urine or stool, random and frequent nose bleeds, etc.

As with any health condition, it is important to keep track of your symptoms and reach out to a medical professional if anything out of the blue is noticed.

Many people confuse hemophilia with thrombocytopenia. Whereas hemophilia is the lack of specific clotting factors, thrombocytopenia is the lack of platelets. Both disorders can appear to have similar symptoms but have entirely separate physiological causes, resulting in varied treatment methods. However, neither interferes with the other, so both disorders may be treated simultaneously (but this is an extremely rare scenario).

Sources:
Mayo Clinic Staff. (2023, August 29). Hemophilia. Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/hemophilia/symptoms-causes/syc-20373327
Seladi-Schulman, J. (2023, September 5). Hemophilia vs. thrombocytopenia: What’s the difference? Healthline. https://www.healthline.com/health/hemophilia-vs-thrombocytopenia#takeaway