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Hemophilia D G P

Diego González

Created on November 26, 2023

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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.

Causes

It is caused by a mutation or change, in one of the genes, that provides instructions for making the clotting factor proteins needed to form a blood clot. This change or mutation can prevent the clotting protein from working properly or to be missing altogether. These genes are located on the X chromosome.

Main symptoms

Common signs of hemophilia include: * 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 (which is bruising) or muscle and soft tissue causing a build-up of blood in the area (called a hematoma).

treatment

The best way to treat hemophilia is to replace the missing blood clotting factor so that the blood can clot properly. This is typically done by injecting treatment products, called clotting factor concentrates, into a person's vein.

How to prevent it?

Because the condition is genetic, there's no way to prevent hemophilia. However, patients can take steps to limit the frequency and severity of their bleeding. Aspirin and NSAIDs (ibuprofen and similar drugs) can worsen bleeding in patients with hemophilia.

Conclusion

The goal of hemophilia treatment is to prevent life‐threatening bleeding and long‐term bleeding‐related complications, thus allowing a normal life expectancy and quality of life. Knowing the mutation that a person with hemophilia has is important for genetic testing of family members. It also can help predict how likely it is that a person will develop an inhibitor.