Statistics reveal that the occurrence of hemophilia is approximately 1 in every 10,000 male births and 1 in about 20,000 female births. The X chromosome genetic disorder is mostly inherited from the mother. The resultant genetic deficiency grossly lowers the blood plasma coagulation factor that is the primary requirement for normal clotting. The condition is characterized by lack of fibrin formation necessary for the clotting action. Due to the deficiency, a hemophiliac does not necessarily bleed more than a normal person, but definitely bleeds longer. The genetic blood disorder causes the affected person to lose a lot of blood from even a minor injury; bleeding that could last for weeks. This proves fatal in the case of brain injuries and those involving major blood vessels. Permanent debilitation results in death. In case of hemophilia, late and internal re-bleeding leads to complications, such as hemorrhage, hemarthrosis, menorrhagia, and gastrointestinal bleeding.
Who Discovered Hemophilia?
The earliest account on the condition was recorded by Dr. John Conrad Otto, in 1803. The physician recorded a 'genetic hemorrhagic disposition', establishing that the disorder was hereditary and more evident in males than in females. His records reveal a 1720 cases in Plymouth. The term 'hemophilia' was first coined at the University of Zurich in 1828. It was not until 1937 that the Harvard doctors Patek and Taylor discovered the anti-hemophilic globulin. The study of hemophilia types A and B as triggers to more than one form is attributed to a Buenos Aires doctor, Pavlosky.
Hemophilia A is caused due to the absence of the functional clotting Factor VIII. This deficiency is observed in 90% of the cases. Hemophilia B is the result of the lack of Factor IX, while Hemophilia C is autosomal in nature, not X-linked. The condition is quite rare and can worsen due to blood contamination. Frequent transfusions expose the affected person to viruses such as HIV and hepatitis. Genetic counseling and testing is very important for families that have a medical history of hemophilia. Prenatal DNA testing helps detect the deficiency in time.
There is no cure for this medical condition. Nevertheless, it can be controlled with:
- Blood infusions to correct the deficient-clotting factor
- Factor isolation within the blood serum
Hemophiliacs lack the protein chromosome that is essential for normal blood clotting. This clotting factor works along with the platelets, cells in the bone marrow, to help in the clotting process.
Hemophilia staging largely depends on the deficiency of the clotting factor in the blood. The condition can also be acquired during a lifetime, with the formation of antibodies averse to the clotting factors in the bloodstream.
The extent of bleeding in this disorder depends on the type and severity. Bleeding can be obvious or external, or hidden or internal. The part of the body injured swells as the bleeding continues, till movement is temporarily lost.
Disclaimer: This HealthHearty article is for informative purposes only, and should not be used as a replacement for expert medical advice.