Hemophilia is a disorder, which is extremely fatal. According to the research, it’s found out that almost 1 in every 5000 males is affected with this disorder these days in India. Almost 1500 kids are born every year with it. If left untreated, it may cause severe damage to the individuals. So, it has become extremely important to make people aware about the various facts and myths about this deadly menace.
1. Hemophilia: A Royal Disease
Hemophilia is defined as the congenital disorder. It is an inherited bleeding disorder, which is characterized by poor clotting of blood and excessive bleeding. The internal bleeding may be so abnormal that it may even cause death. It is known as the royal disease because the Queen of England, Queen Victoria was a carrier of the disease. Her daughters carried the mutated gene and passed to many royal families.
2. What Causes Hemophilia?
It is caused by genetic mutation. The mutation involves all the genes, which have the code for proteins, which help in the process of blood clotting. And, the clotting process is affected severely. The clotting process takes place through a lot of complex mechanisms. This involves 13 proteins, named as I through XIII. They are also known as the clot factors. When the blood vessels lining get damaged, platelets get into the affected area and form a plug initially to restrict the blood flow. The activated platelets release certain chemicals to initiate the clotting process activating all the 13 proteins. Finally a fibrin gets formed in the form of a mesh to produce the blood clot. Mutation in factor VIII gives rise to Hemophilia A while mutation in factor IX results in Hemophilia B (also termed as Christmas Disorder) and that in factor XI leads to Hemophilia C. Though, Hemophilia C is not that common and the symptoms are not that severe as well.
3. Characteristic Signs and Symptoms
The degree of symptoms of this congenital disorder depends on the severity of the mutation. Bleeding may occur at early ages and may continue to occur spontaneously. But, individuals with mild hemophilia may bleed too much only in response to injuries or trauma. Several sites are affected, which include joints, GI tract and muscles. Hemarthrosis, intracranial hemorrhage, hematuria are some of the signs of hemophilia.
4. Hemophilia Affects Men More than Women
This disorder is an X-linked genetic disorder. The faulty gene lies in the X chromosome. Thus, the males (XY chromosome) who have this mutated gene acquire this disorder. However, women (XX chromosome) don’t generally get the disorder because of the second X in their chromosome. However, they may be a carrier and may acquire it from her dad and pass it on to her son.
5. Replacement Therapy for Hemophilia
The treatment for this bleeding disorder is the Replacement therapy. This therapy increases the concentration of the clotting factor in the blood by injecting it into the veins.
Since it is an inherited disorder, it can never be prevented. Only, you may arrest its severity by proper knowledge of the disease and awareness on the subject. April 17th is observed as the World Hemophilia Day across the globe to join hands and show support for those, who are affected with this fatal disorder.