Hemophilia is a rare condition in which the blood doesn’t clot normally due to lack of sufficient blood-clotting proteins or clotting factors. Hemophilia causes longer bleeding after a cut or an injury; however, it is significantly concerning when the bleeding is internal. Internal bleeding can damage organs and tissues and may be life-threatening.

Hemophilia is a genetic disorder, meaning that it is inherited. There is no cure for the disease but there are treatments that can help manage it.

 

Symptoms

Symptoms of hemophilia vary depending on the level of clotting factors. If the level of clotting factors is slightly reduced, bleeding may be an issue after surgery or trauma. On the other hand, if the clotting-factor deficiency is severe, spontaneous bleeding may occur.

 

Symptoms of spontaneous bleeding:

 

  • Unexplained and excessive bleeding from cuts, injuries or after surgery or dental work
  • Many large or deep bruises
  • Bleeding after vaccinations
  • Pain, swelling or tightness in the joints
  • Blood in urine or stool
  • Unexplained nosebleeds
  • Unexplained irritability in infants

 

Emergency symptoms of hemophilia:

 

  • Sudden pain, swelling and warmth in large joints (knees, elbows, hips, shoulders and limb muscles)
  • Bleeding from an injury
  • Painful prolonged headache
  • Repeated vomiting
  • Extreme fatigue
  • Neck pain
  • Double vision

 

Causes

When bleeding occurs, the body normally pools blood cells together to form a clot to stop the bleeding. The clotting process is encouraged by certain blood particles such as platelets and plasma proteins. A deficiency in one of the clotting factors causes hemophilia.

Hemophilia is inherited; however, some cases of hemophilia have no family history of the disease. In those cases hemophilia is caused by a spontaneous genetic mutation.

There are several types of hemophilia, which are classified according to which clotting factor is deficient:

 

  • Hemophilia A: The most common type of the disease caused by insufficient clotting factor VIII.
  • Hemophilia B: The second most common type caused by insufficient clotting factor IX.
  • Hemophilia C: This type presents with mild symptoms and it is caused by insufficient clotting factor XI.

 

Hemophilia inheritance depends on the type of hemophilia:

 

  • Hemophilia A or B: The gene that causes these types of the disease is located on the X chromosome and it can be passed from mother to son through one of the mother’s genes. Hemophilia A or B occurs mainly in boys while women with the defective gene are carriers and show no symptoms. Women can experience symptoms if the VIII or IX factors are slightly decreased.
  • Hemophilia C: This type of the disorder can be passed on to children by either parent and can equally occur in girls and boys.

 

Complications

Complications of hemophilia include:

 

  • Deep internal bleeding: Deep muscle bleeding can cause the limbs to swell. The swelling may press on the nerves and lead to numbness or pain.
  • Damage to joints: Internal bleeding can put pressure on the joints and cause severe pain. If left untreated, frequent internal bleeding can lead to arthritis or destruction of the joint.
  • Infection: People with hemophilia are at an increased risk of infection due to contaminated blood products during blood transfusions.
  • Adverse reaction to clotting factor treatment: Some people have negative reaction to clotting factor treatments causing the immune system to develop inhibitors that inactivate the clotting factors making the treatment less effective.