Hemophilia: Types, Causes, Symptoms, Diagnosis, Treatment, Prevention, and Complications

It is a hereditary condition. This means that it is passed from mother to child at the time of conception.

The word hemophilia derives from two Greek words: haima, which means blood, and philia, which means affection.

The blood of a person with hemophilia does not clot normally, as it does in a healthy person.

The individual does not bleed more profusely or faster than other people; however, it will bleed for a longer time.

Many people believe that hemophiliacs bleed a lot from minor cuts. This is a myth.

External injuries are generally not serious. Much more important is internal bleeding (internal bleeding).

These bleeds occur in the joints, especially the knees, ankles, and elbows, and in the tissues and muscles.

When bleeding occurs in a vital organ, especially the brain, the life of a hemophiliac is in danger.

Hemophilia is an inherited disease that causes the blood to be unable to clot.

The transmission of the disease is recessive and X-linked, the defective gene is located on this chromosome.

There are two main forms of hemophilia: hemophilia A and hemophilia B based on clotting factor deficiency.

Hereditary transmission of the disease is recessive and X-linked, only boys are affected by the disease, while girls only transmit the disease.

The incidence of hemophilia is about 15 to 20 per 10,000 men. It is not a contagious disease.

Types of hemophilia

Hemophilia A is called by two other names:

Classic hemophilia, because it is the most common factor deficiency and factor VIII deficiency hemophilia. It is the lack of factor VIII, the protein in the blood, that causes the clotting problem.

Hemophilia B also has two other names:

Christmas disease, which comes from the name of Steven Christmas, a Canadian who in 1952 was the first person to be diagnosed with this different form of hemophilia and factor IX deficiency hemophilia (which is the missing blood protein and whose absence slows down normal clotting process).

Both hemophilia A and B are very rare disorders.

Hemophilia is a condition that can occur in all races, ethnicities, and sex.

But severe forms of hemophilia affect men to a greater extent.

Women can be seriously affected only if the father is a hemophiliac and the mother is a carrier, or in the case of inactivation of the X chromosome.

When a woman’s normal X chromosome is inactive in the production of factor VIII or IX. But these cases are extremely rare.

However, some women, who are normally carriers, have had symptoms of mild hemophilia.

Since hemophilia is an inherited disorder, people are affected at birth.

In fact, hemophilia is often diagnosed in the first year of an individual’s life.

Without proper treatment, hemophilia is crippling and can often become fatal.

Hemophilia can also be classified as severe, moderate, or mild, based on the percentage of the normal level of factor VIII or factor IX in the blood:


Severe hemophiliacs with less than 1% of the normal level of factor VIII or IX in their blood bleed several times a month.

Bleeding is often the result of a small bump.

Although, often, there is no apparent cause for the bleeding.


Moderate hemophiliacs with 1 to 5% of the normal level of factor VIII or IX in their blood bleed less frequently.

Their bleeds are often the result of minor trauma, such as a sports injury.


Mild hemophiliacs have 5 to 30% of the normal level of factor VIII or IX in their blood.

They have even less bleeding. They may be aware of your bleeding problem only in the case of surgery, tooth extraction, or serious injury.

Women with mild hemophilia may bleed more during menstruation (periods).


When someone is injured, clotting factors are normally activated in a cascade.

This results in the formation of a thrombus to close the lesions in the affected vessel wall.

In hemophiliacs, the function of a clotting factor is impaired.

Hemophilia is clinically reflected by the appearance of severe bleeding due to coagulation malfunction, which cannot rapidly obstruct the lesions produced in the vessels.

Without proper treatment of minor injuries, significant blood loss can occur.

Symptoms of hemophilia

The severity of the disease varies with the severity of the clotting factor deficiency.

The following symptoms can be observed in the patient with hemophilia:

  • Severe and persistent bleeding after minor injuries.
  • Eventually, spontaneous bleeding occurs with no apparent cause.
  • Bleeding in the joints eg: swelling of the knee, muscles, urinary tract with bloody urine, the gastrointestinal system with bloody stools (tar-colored stools) and mucous membranes.
  • In cases of severe bleeding, the appearance of anemia.
  • In case of repeated bleeding, development of iron deficiency anemia.
  • The appearance of chest or abdominal pain of unknown origin requires immediate diagnostic treatment due to the risk of internal bleeding.

Diagnosis of hemophilia

A history should be taken considering the patient’s symptoms and asking questions about other cases of hemophilia in the family.

The physical exam performs a thorough inspection of the skin, mucous membranes, and joints to identify any signs of bleeding.

Functional blood tests and clotting factor analysis are performed, platelet function is normal but clotting time is significantly extended.

The corresponding genetic analyzes will also be carried out.

When organ injuries are suspected, imaging tests such as: ultrasound images, computed tomography are performed.

Diagnosis must begin quickly to achieve optimal therapeutic management.

Hemophilia Treatment Options

Clotting factor

Treatment of hemophilia consists of repeated administration, several times a week, of clotting factor to ensure proper blood clotting function.

Lyophilized concentrates from blood donors and genetically engineered factor concentrates are the basis of this treatment.

The advantage of the factors produced by genetic engineering is that the risk of transmission of infectious diseases is very low when concentrates from blood transfusions are applied.

Hemophilia patients can learn to self-administer clotting factors and therefore treat themselves with injections at home.

Treatment of large and small wounds

Minor wounds such as finger cuts, abrasions, nosebleeds, are treated as in healthy subjects.

Often times, a pressure bandage needs to be applied for a longer period.

Bruises require treatment if symptoms get worse over time.

Muscle or joint bleeding requires immediate care to avoid loss of function.

When the presence of blood in urine or stool is observed, a doctor should be consulted immediately.

If the person has a head injury, the possibility of a brain hemorrhage should be considered.

This type of bleeding sometimes occurs spontaneously.

Cerebral hemorrhage is an absolute medical emergency, requiring immediate administration of clotting factor in high doses.

Trauma to the neck, tongue, and face also require emergency treatment due to the risk of airway obstruction.

When in doubt, it is best to proceed with immediate administration of clotting factor.


  • Using physical therapy exercises to build muscle and improve coordination of movement reduces the risk of bleeding.
  • High risk sports should be avoided.
  • Medications that interfere with blood clotting are contraindicated in hemophilia. These medications are aspirin and most antipyretics and pain relievers.
  • Products containing acetaminophen (Panadol, Tylenol) can be used without restrictions to relieve pain or reduce fever.

Possible complications

Repeated bleeding in the joints is accompanied by inflammatory processes that contribute to the destruction of the joints gradually.