European history beckons with blood disorder ‘Hemophilia’ for centuries together. Hailed as a ‘Royal Disease’, because Queen Victoria, who was the carrier of the gene, transmitted this disease to her sons and daughters who belonged to Royal families of Spain, Germany and Russia.
Hemophilia, a rare genetic blood disorder, affects mostly young boys and men. An estimated of over 50000 people across the globe are suffering from hemophilia disorder. In US alone, over 17000 males are born with this disease.
Hemophilia is a rare genetic blood disorder. It is hereditary in nature. This disorder prevents coagulation of blood. This leads to uncontrollable bleeding. In fact, it is worst in children, when bleeding fails due to absence of specific proteins called ‘factors’. These factors are necessary to prevent excessive clotting.
There are there two types of Hemophilia
Hemophilia A: This is caused due to lack of blood clotting of factor VIII. Approximately 85 percent of hemophiliacs suffer from this type.
Hemophilia B: This is caused due to deficiency of factor IX.
Hemophilia C: This caused due to deficiency of factor XI
Hemophilia is a rare hereditary disorder. It is mostly passed on from mother to the sons. The reason behind this rare transmission, it is caused by the mutation to a single recessive gene on the X chromosome.
Biologically, females have two X chromosomes, while males have one X and one Y chromosome. Which means, that females carry one of the hemophilia gene in one of her X chromosome. If she becomes pregnant, chances are her son will have the disease, while her daughter becomes a carrier of the gene.
So far, in about one-third of the children with hemophilia, there is no family history of the disorder. Normally, the disorder results due to creation of new gene mutation. This genetic defect affects due to the following questions:
- How much clotting factor a person will produce?
- How the factor will function?
Based on these questions, medical practitioners came to a conclusion that the less normal clotting factor you have, the more severity is the hemophilia.
Being a bleeding disorder, the most common symptom of hemophilia is the non-stop excessive bleeding and bruising. Defect in blood clotting factors results in low levels of fibrin. This impairs the body’s ability to create strong blood clots.
Bruises normally occur from minor accidents. This causes swelling, where a large number of blood clots are formed under the skin.
Hemophilia signs are often characterized by bleeding from the nose, mouth and gums. Daily brushing or any kind of dental procedures is a sure symptom.
Bleeding into a joint
This can lead to excruciating chronic arthritis, deformity and crippling with repeated occurrences.
Bleeding into the muscles
Bleeding into the muscles can cause swelling, pain, and redness. This can cause increased pressure on tissues and nerves, resulting in deformity.
Bleeding from injury or bleeding in the brain
Bleeding from injury, or spontaneously in the brain, is the most common cause of death in children with hemophilia. A brain hemorrhage can occur from even a small bump on the head. It could lead into blindness, retardation and a variety of neurological deficits.
WHOM TO CONSULT?
A child physician or a pathologist will definitely assist you with correct diagnosis and treatment for a healthy tomorrow.