What is Haemophilia? Causes, diagnosis and treatment

What is Haemophilia? Causes, diagnosis and treatment
Medical Student

Hemophilia is a group of inherited blood disorders in which the blood does not clot properly. Hemophilia is the standard international spelling, also known as haemophilia in the UK, other translations include: hémophilie, hemofilie, hemofili, hemofilia, hämophilie, emofilia. We will use the standard international spelling for the purpose of this section.

Bleeding disorders are due to defects in the blood vessels, the coagulation mechanism, or the blood platelets. An affected individual may bleed spontaneously or for longer than a healthy person after injury or surgery.

The blood coagulation mechanism is a process which transforms the blood from a liquid into a solid, and involves several different clotting factors. The mechanism generates fibrin when it is activated, which together with the platelet plug, stops the bleeding.

When coagulation factors are missing or deficient the blood does not clot properly and bleeding continues.

Patients with Hemophilia A or B have a genetic defect which results in a deficiency in one of the blood clotting factors.

Queen Victoria was a carrier and passed the mutation to her son Leopold, and through several of her daughters to members of the royal families of Spain, Russia, and Germany.

Tsarevich Alexei Nikolaevich, son of Nicholas II (Russia) suffered from hemophilia and was a descendant of Queen Victoria – Rasputin was successful in treating his hemophilia, it was claimed.

Types of Hemophilia / Haemophilia

Hemophilia A and Hemophilia B

There are two main types of hemophilia – Hemophilia A (due to factor VIII deficiency) and Hemophilia B (due to factor IX deficiency). They are clinically almost identical and are associated with spontaneous bleeding into joints and muscles and internal or external bleeding after injury or surgery.

People with hemophilia have a genetic mutation in the affected gene on the X chromosome, which results in reduced production of Factor VIII or IX and creates a bleeding tendency, because coagulation takes much longer than normal, thus making the clot weak and unstable

Acquired hemophilia

This is very rare. The patient develops the condition during his/her lifetime and it does not have a genetic or heritable cause. It occurs when the body forms antibodies that attack one or more blood clotting factors, (usually factor VIII), thus preventing the blood clotting mechanism from working properly. Patients may be male or female and the pattern of bleeding is rather different from that of classical hemophilia, the joints being rarely affected. The disorder is particularly associated with old age and occasionally complicates pregnancy.

What Causes Hemophilia / Haemophilia?

People with hemophilia are born with it. It is caused by a fault in one of the genes that determine how the body makes blood clotting factor VIII or IX. These genes are located on the X chromosome. What are the symptoms of hemophilia?

Hemophilia symptoms vary, depending on the degree of blood clotting factor (coagulation factor) deficiency and they also depend on the nature of any injury.

Three levels of hemophilia are recognized, according to the level of clotting factor amounts in the blood. These are often expressed as percentages of normal:

  • Above 5% – mild hemophilia
  • 1% to 5% – moderate hemophilia
  • Less than 1% – severe hemophilia

Mild hemophilia

People with inherited mild hemophilia may not have any symptoms until an event occurs which wounds the skin or tissue, such as a dental procedure or surgery, and results in prolonged bleeding. In societies where male circumcision is carried out soon after birth, mild hemophilia will be detected earlier. Joint bleeding is uncommon.

Moderate hemophilia

Those with inherited moderate hemophilia will be noticeable early on. The child will bruise easily and may also experience internal bleeding symptoms, especially around the joints, and after a blow or a fall. Bleeding that occurs inside a joint is usually referred to as a joint bleed.

Symptoms of a joint bleed:

  • Tingling sensation in the joint
  • Pain in the joint
  • Irritation in the joint

If left untreated, the patient may eventually experience:

  • More severe pain in the joint
  • Joint stiffness
  • The affected area becomes swollen, tender and hot

Joint bleeds most commonly affect the:

  • Ankles
  • Knees
  • Elbows

…and may less commonly affect the shoulders, hips or other joints.

Any surgical intervention, circumcision, dental procedure or injury will result in prolonged bleeding in a person with hemophilia.

Severe hemophilia

Symptoms are similar to those found in moderate hemophilia, but occur more frequently and are usually more severe.

A child with severe hemophilia will often bleed for no apparent reason, often referred to as spontaneous bleeding. Most commonly, in early childhood from about 18 months of age, the nose or mouth start to bleed or apparently spontaneous bruises appear, particularly on the legs. Parents are sometimes suspected of causing non-accidental injury (deliberate harm) to their children.

Symptoms of hemophilia type bleeding may include:

  • Several large or deep bruises
  • Joint pain or swelling
  • Unexplained bleeding or bruising
  • Blood in feces (stools)
  • Blood in urine
  • Unexplained nosebleeds
  • Unexplained gum bleeding
  • Tightness in the joints

Intracranial hemorrhage (bleeding inside the skull)

About 1 in every 30 patients with hemophilia will have intracranial hemorrhage at least once during their lives. This should be treated as a medical emergency. Spontaneous intracranial hemorrhage is rare and in many cases bleeding inside the skull will be the result of a blow to the head.

Symptoms of intracranial hemorrhage include:

  • A bad headache
  • Vomiting
  • Confusion
  • Fitting (Convulsion)
  • Loss of balance
  • Slurred speech, or other speaking difficulties
  • Stiff neck
  • Vision problems
  • Loss of coordination
  • Some of the facial muscles do not work (sometimes all of them)

How is hemophilia diagnosed?

Prenatal testing – if a pregnant woman has a history of hemophilia, a hemophilia gene test can be done during pregnancy. A sample of placenta is removed from the uterus and tested. This test is known as a CVS (chorionic villus sampling) test.

Blood test – if a doctor suspects a child may have hemophilia a blood test can determine whether the patient has hemophilia A or B, and how severe it is. Blood tests can be performed from the time of birth onwards.

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