What is hemophilia?

What is hemophilia?

Hemophilia is a rare disorder.

Because of pathology your blood lacks sufficient blood-clotting proteins (clotting factors) and doesn't clot normally.

If you have hemophilia, you may bleed for a longer time after an injury than you would if your blood clotted normally.

If you have a severe deficiency of the clotting factor protein, the greater health concern is deep bleeding inside your body, especially in your knees, ankles and elbows. That internal bleeding can damage your organs and tissues, and may be life-threatening.

Hemophilia inheritance

Hemophilia is a genetic disorder.

Hemophilia almost always occurs in boys and is passed from mother to son through one of the mother's genes. Most women with the defective gene are simply carriers and experience no signs or symptoms of hemophilia.

However, about 30% of people with hemophilia have no family history of the disorder. In these people, an unexpected change occurs in one of the genes associated with hemophilia.

Hemophilia is a severe, congenital and incurable blood disorder that requires periodic transfusions of antihemophilic factor concentrates throughout life. Factor concentrate is a blood-thinning drug that is indispensable for the life of people with hemophilia.

International Day of Hemophilia

April 17 marks the International Day of Hemophilia.

With this date, events are held in different countries of the world - discuss the protocol of protection against hemophilia, new methods related to the management of pathology, modern methods of laboratory research of bleeding pathologies, the role of physiotherapy, the importance of donor plasma and more.

Of course, the conference is also attended by patients with hemophilia, who share their knowledge and experience with each other - although the disease is chronic and does not respond to treatment, but with the right course of treatment and recommendations, patients with hemophilia live in an active rhythm.

It should be noted that with modern medicine, the treatment of hemophilia is much easier today and, most importantly, the disease can be diagnosed and detected at an early stage.

Symptoms

Signs and symptoms of hemophilia vary, depending on your level of clotting factors. If your clotting-factor level is mildly reduced, you may bleed only after surgery or trauma. If your deficiency is severe, you may experience spontaneous bleeding.

Signs and symptoms of spontaneous bleeding include:

  • Unexplained and excessive bleeding from cuts or injuries, or after surgery or dental work
  • Many large or deep bruises
  • Unusual bleeding after vaccinations
  • Pain, swelling or tightness in your joints
  • Blood in your urine or stool
  • Nosebleeds without a known cause
  • In infants, unexplained irritability

 

Source:

https://www.mayoclinic.org/diseases-conditions/hemophilia/symptoms-causes/syc-20373327