Haemophilia – what is haemophilia, symptoms, treatment and diagnosis

What is haemophilia

Haemophilia is a rare hereditary disease, yet it is also a clinically very significant condition. Von Willebrand disease is more common in terms of incidence, but haemophilia surpasses it in the severity of bleeding symptoms.

Haemophilia A and haemophilia B

Haemophilia A is caused by a deficiency of so-called "antihemophilic globulin", i.e. factor FVIII, or by a reduction in its functional activity due to mutations in the gene for this factor.

In haemophilia B, there is a deficiency or reduction in the functional activity of factor IX. The inheritance pattern and symptoms of both types are the same. Haemophilia A occurs in approximately 1 in 5,000 male births, and haemophilia B in approximately 1 in 25,000 male births.

Haemophilia A is more common (85%) than haemophilia B (15%). The most famous pedigree with the first documented occurrence of haemophilia B is that of Queen Victoria of England, where one of her sons had haemophilia and two of her daughters were heterozygous carriers of the disease. Two more granddaughters of Queen Victoria were also carriers of haemophilia B, and their marriages introduced these genes into the royal families of Russia and Spain. Today's members of the British royal family are descendants of Queen Victoria's healthy son, and haemophilia B is no longer carried in this line.

Haemophilia in the Czech Republic

According to the CNHP registry (Czech National Haemophilia Programme), there are 752 people with haemophilia registered in the Czech Republic — 647 with haemophilia A and 105 with haemophilia B. Approximately one-third are children under 18 years of age. Comprehensive care for children with haemophilia is provided at a total of 8 paediatric haemophilia centres. Two of the centres in the Czech Republic (in Prague and Brno) meet the criteria of the World Federation of Hemophilia (WFH) for so-called Comprehensive Care Centres (CCC). Adults are cared for by 7 adult centres, again under the methodological guidance of two CCCs in Prague and Brno.

Clinical presentation

The clinical presentation of haemophilia depends on the severity of the condition. Patients with a factor VIII or IX level below 1% — patients with severe haemophilia — are most at risk. These patients bleed into joints, muscles, and soft tissues. They are also at risk of bleeding into the central nervous system, internal gastrointestinal bleeding, haematuria, bleeding after injuries, and dental surgical procedures. They often bleed spontaneously as well. A factor VIII or IX level in the range of 1–5% is associated with moderate haemophilia, which presents with similar bleeding symptoms, though bleeding usually does not occur spontaneously.

In mild haemophilia (factor level 5–40%), bleeding often only becomes apparent during dental or surgical procedures.

Most severe bleeding episodes, if left untreated, are life-threatening. Every head injury must be treated as a life-threatening bleeding event requiring appropriate treatment.

Severity classification

Diagnosis

Haemophilia is diagnosed by a haematologist based on family history and laboratory tests. The basic screening test is the activated partial thromboplastin time (aPTT), which is typically prolonged in people with haemophilia. Definitive diagnosis requires measurement of factor VIII activity (for haemophilia A) or factor IX activity (for haemophilia B). Genetic testing should also be performed for each patient to identify the specific mutation, which is essential for carrier detection within the family.

Further information

• Von Willebrand disease — the most common inherited bleeding disorder
• Haemophilia treatment
• Heredity and inheritance
• Haemophilia and inhibitors
• Social support