About the disease

Hemophilia is a genetic disorder that impairs the body’s ability to clot blood properly in the event of an injury. A hemophiliac’s cut will take longer to stop bleeding, because they have an insufficient amount of clotting factors in their blood. In some cases clotting factors are absent altogether.

Normally, a cut should stop bleeding after a few minutes, but for the hemophiliac this can take much longer and even put their life at risk. The most dangerous injuries for people with hemophilia are internal or particularly large lacerations. Hemophiliacs need to be particularly vigilant and protect themselves from possible injuries.

There are three major types of hemophilia: A, B and C, with the last type being the rarest. Type A is the most common type of hemophilia and is characterized by a factor VIII deficiency. This type is the least dangerous and it mostly affects men. This type of hemophilia is usually treated by blood transfusions that are rich in clotting factors. Unfortunately, this raises the risk of infections transferred from the donor. Life expectancy for people with hemophilia reaches 59 if they have been infected with a serious condition and 72 if they have not.

Hemophilia B develops due to an insufficient amount of factor IX (FIX). This is a less common type of hemophilia, with just 1 person in 5,000 having it (hemophilia A is 4 times more common).

Type C is the rarest type of hemophilia and it is also the most unpredictable. It develops due to an insufficiency in factor XI (FXI) but unlike with hemophilia A and B, the frequency of bleeding is not determined by the patient’s factor level. This type of hemophilia affects approximately 1 in 100,000 people, of which most are Jewish of Ashkenazi descent.

Symptoms

• Bleeding that lasts longer than usual
• Frequent bleeding
• Heavy bleeding during periods (in women)
• Risk of hemorrhage after childbirth (in women)
• Internal bleeding without previous injury or trauma (in severe cases)

Diagnosis

• During a general examination, the doctor will ask the patient about their relatives, to determine whether hemophilia runs in the family.
• The patient will also be asked about how often they bleed, how long it takes for the bleeding to stop and whether they have ever sustained an injury that provoked internal bleeding.
• A clotting test to find out how fast the patient’s blood clots can determine the severity of the condition.
• A clotting factor test can determine the type of hemophilia.

Treatment

• Hemophilia is often asymptomatic, depending on the severity of the disease. In mild cases, treatment is not required, unless substantial blood loss occurs after surgery or injury.
• Severe stages of hemophilia can be treated with recombinant factor XI or donations of plasma.
• Drug treatments run fewer risks than plasma donation, since the latter can potentially pass on an infection from the donor to the patient.

Authors: Dr. Vadim Zhiliuk, Dr. Sergey Pashchenko