What is Hemophilia?

Hemophilia is usually an inherited bleeding disorder in which the blood does not clot properly. This can lead to spontaneous bleeding as well as bleeding following injuries or surgery. Blood contains many proteins called clotting factors that can help to stop bleeding. People with hemophilia have low levels of either factor8 or factor 9. The severity of hemophilia that a person has is determined by the number of factors in the blood. The lower the amount of the factor, the more likely it is that bleeding will occur which can lead to serious health problems.

Types of Hemophilia

  1. Hemophilia A: It is caused specifically by a mutation in the Factor VIII gene on the X chromosome.
  2. Hemophilia B: This is caused by a mutation in the Factor IX gene on the X chromosome.

Hemophilia

Signs and Symptoms

  • Bleeding into the joints. This can cause swelling and pain or tightness in the joints; it often affects the knees, elbows, and ankles.
  • Bleeding into the skin or muscle and soft tissue causes a build-up of blood in the area. That is called a hematoma.
  • Blood in the urine or stool.
  • Bleeding of the mouth and gums, and bleeding that is hard to stop after losing a tooth.
  • Bleeding after circumcision.
  • Frequent and hard-to-stop nosebleeds.
  • Bleeding after having shots, such as vaccinations.
  • Bleeding in the head of an infant after a difficult delivery.

Prevention of Hemophilia

It cannot be prevented, but it can be diagnosed and help the mother understand the risks of having a baby with hemophilia. The female members of the family are the only carriers of this syndrome. If there is a history of hemophilia in a family, it is better to consult a physician and have a blood test to examine the clotting factors and to perform a molecular genetic test to examine the carriers in their genes.

As per the studies conducted on this inherited genetic disorder, the genes from the mother can be transmitted to both her children. Among them, there are 50% chances that her son will have hemophilia A or B and 50% chances that her daughter will be a carrier of this gene.

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