What is it?

Hemophilia is usually an inherited genetic condition in which the body fails to produce blood clots, resulting in longer bleeding time after an injury and easy bruising. In more severe cases, there is also a risk of bleeding inside joints or to the brain. The proteins that are not functioning properly in these disorders are the different clotting factors. Most of the forms of hemophilia are inherited, but in about 30% there is no family history. Usually, in the herited form, the genes coding for clotting factor are inherited on the X chromosome, meaning hemophilia is much more common in men. The most common types of hemophilia are hemophilia A- which occurs due factor 8 deficiency, and hemophilia B- which occurs due to factor 9 deficiency. Women can carry the defective gene and pass it on but usually they will not experience excessive bleeding. There are also forms of acquired hemophilia, due to immune system issues- when the body attacks its own clotting factors. It could occur in pregnancies, cancer, multiple sclerosis and autoimmune conditions. Hemophilia complications include deep internal bleeding causing damage to surrounding tissue, joints damage and adverse reaction to clotting factor treatment.

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Additional names

This group contains additional names:
- Hemophilia A

Signs & symptoms

Symptoms of hemophilia depend on the severity of the condition and levels of clotting factors. In mild cases, there may be only a tendency to bleed after injuries or surgeries. Symptoms may include excessive bleeding from cuts, injuries, surgery or dental procedures, easy bruising, bleeding after vaccinations, joint pain or swelling, blood in the stool or urine, nosebleeds and in children there could be irritability. If a bleeding to the brain occurs, symptoms may include headache, vomiting, sleepiness, lethargy, double vision, weakness and seizures.

Diagnosis

Hemophilia diagnosis can be made in a blood test which measures levels of clotting factors. If there is a known hemophilia in the family, it is possible to check the fetus for the mutations involved in hemophilia during pregnancy.

Treatment

Treatment for moderate hemophilia usually consists of clotting factor replacement therapy, either preventively or on demand.Factor replacement can be either isolated from human blood serum, recombinant, or a combination of the two. Some people may develop antibodies to these factors. Other treatments include the hormone desmopressin which in mild hemophilia may stimulate the body to release more clotting factors. Clot- preserving medication and fibrin sealants are also in use.

☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.

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