Know All About Hemophilia – The Royal Disease

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Hemophilia which literally translates to an affinity for blood is a rare genetic disorder that causes problems with clotting. It was earlier referred to as a ‘royal disease’ as Queen Victoria of England was a carrier of this condition. She also passed it on to three of her nine children and one son is believed to have bled to death due to this.

Hemophilia

Causes

  1. When a person bleeds, there are proteins within the blood that immediately come together to form a clot or a net that prevents further bleeding.
  2. In people with hemophilia, this clot does not form and therefore, they bleed for much longer times.
  3. In earlier times, when the condition was not yet known, there were many cases where the person bled to death.
  4. There are two types of hemophilia – A (factor Vlll deficiency) and B (factor Xl deficiency).
  5. The severity of the condition will depend on the partial or total absence of the clotting proteins (total absence equals severe hemophilia).

Symptoms

If there is only a mild form of hemophilia, then there may not be any symptoms. Here are a few symptoms of hemophilia which might vary depending on the severity.

  1. Bleeding time is definitely delayed, and even with small cuts or injuries, the person may bleed for a much longer time as there is no clot formed to stop the bleeding.
  2. People with the severe conditions also can have spontaneous bleeding, especially internally. This can produce large bruises leading to purple spots on the skin.
  3. Frequent nosebleeds, dental injuries are also common.
  4. Because of internal injuries like ulcers, blood in the urine or stool should not be ignored.

Risk Factors

This is a hereditary condition. There are two sex chromosomes in every individual – X, and Y – and this disease is carried by the X chromosome.  As females have 2 X chromosomes, and males have an X and a Y each, the risk of men developing this condition is higher. Females often end up as carriers and transmit the disease. There are also instances of hemophilia with no family history, which happens due to genetic mutations.

Diagnosis

In addition to history, bleeding time and clotting time are checked.  Further, blood tests are also done to confirm that the clotting factors are indeed absent. In women who are suspected carriers, fetal tests can be done at 10 weeks to check if the fetus could be hemophilic.

Treatment

Here’s how to treat hemophilia:

  1. As the condition is caused by a deficiency of the clotting factor, periodically replacing the clotting factor is the mainstay of treatment.
  2. These are obtained from other humans or manufactured in labs and given as injections.
  3. Depending on the severity, some people receive replacement therapy at regular intervals or once they have some bleeding problems.

People with hemophilia should be careful not to get hurt, especially avoid handling knives or other sharp instruments so they do not get cuts. They should also maintain good oral hygiene to reduce the need for dental surgeries. Some people may require clotting factor injections on a regular basis.

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