Diagnosis
Diagnosis

Symptoms / Diagnoses

What are the symptoms?

When babies are teething, this can often cause bleeding. This and bruises from falls are usually the first signs of haemophilia.  Until the age of 2, bleeding into joints is uncommon. Most bleeds are surface bruises. When babies are learning to walk, they fall frequently and suffer many bumps and bruises.

Common symptoms of haemophilia seen more frequently after the age of two are:

  • bleeding into joints (knees, elbows, ankles, shoulders, hips, wrists in descending order of frequency)
  • bleeding into soft tissues and muscles (the iliopsoas muscle around the hip, calf, forearm, upper arm, Achilles tendon, buttocks)
  • bleeding in the mouth from a cut, bitten tongue or loss of a tooth (especially in children)
  • blood in the urine (hematuria)
  • surface bruising.

What does a bleed feel like?

A bleed into a joint, if untreated, can go on for days.  The first sign is a feeling of tightness  or an aura in the joint but no real pain. The joint may feel a little puffy to the touch. If untreated, the joint may become hot to the touch. Full range of motion of  the joint can become very painful. If the bleed is in a lower limb, weight bearing becomes difficult.

Usually, the joint becomes visibly swollen. As the bleeding continues and the swelling increases, all movement in the joint is lost. After even a few bleeds like this, if left untreated, the joint can become permanently damaged.

How is it diagnosed?

Both types of haemophilia share the same symptoms and inheritance pattern. Only blood tests can differentiate which factor is affected. How much the condition impacts day to day life is usually related to how much of the clotting factor in the blood. If doctors suspect haemophilia A or B in a young child, they will do some simple lab tests. They will take a blood sample and measure the amount of factor VIII and factor IX in the blood.

  • Factor VIII is the protein which is lacking in haemophilia A.
  • Factor IX is the protein which is lacking in haemophilia B.

The tests will show:

  • if the person has a bleeding disorder
  • what kind of bleeding disorder the person has
  • how severe the bleeding disorder is.

Types of Haemophilia

Severity of haemophiliaPercentage of normal factor activity in bloodNumber of international units (IU) per millilitre (ml) of whole blood
Normal range50%-150%0.50–1.5 IU
mild haemophilia5%-40%0.05–0.40 IU
moderate haemophilia1%-5%0.01­–0.05 IU
severe haemophilialess than 1%less than 0.01 IU

People with severe haemophilia have less than 1% of the normal level of factor VIII or IX in the blood. This means there is no clotting factor to respond to bleeding.  Without treatment, people with severe haemophilia can bleed several times a month. The bleeding is often the result of a minor injury such as a bump or twist. Often, there is no apparent cause for the bleeding these are referred to as spontaneous bleeding episodes. Treatment can be taken regularly (prophylaxis), in the form of intravenous (into a vein) or subcutaneous (under the skin) aims to prevent bleeding episodes to minimise how often these happen. Almost all people severe haemophilia receive prophylaxis.

Those with moderate haemophilia can bleed less often as they have a small amount of clotting factor, and this is offers some protection from bleeding. These usually happen more often after minor trauma, such as a sports injury. Like severe patients, treatment taken regularly prevents or reduces damage occurring and most people receive prophylaxis regularly.

Those who have mild haemophilia generally only experience bleeding problems after an obvious injury or an operation and many mild cases have only been diagnosed after, for example, a tooth extraction or surgery. About 5-10% of those with mild haemophilia receive prophylaxis in the same way as those with moderate or severe. As there is some level of factor already in the body, other types of treatments can be used (Read More)