Haemophilia

Haemophilia is a rare inherited bleeding disorder related to a deficiency of a coagulation factor:

• haemophilia A: factor VIII deficiency;
• haemophilia B: factor IX deficiency.

It mainly affects boys, but girls and women who are carriers may also experience bleeding symptoms.

Severity depends on the coagulation factor level:

• severe form: factor < 1%;
• moderate form: factor between 1 and 5%;
• mild form: factor > 5 and < 40%.

Manifestations may include extensive bruising, prolonged bleeding after trauma or a procedure, as well as muscle or joint haemorrhages. In severe forms, some bleeding episodes may occur spontaneously.

Treatment aims to prevent bleeding and its complications while enabling the child to lead as normal and active a life as possible.

Depending on the type and severity of haemophilia, treatment may include:

• administration of factor VIII or IX;
• regular prophylactic treatment to prevent bleeding;
• in haemophilia A, certain non-replacement treatments, particularly emicizumab, when indicated;
• desmopressin in certain mild forms of haemophilia A;
• additional treatments, particularly antifibrinolytic agents, in certain situations.

Particular attention is paid to the prevention and detection of inhibitors, antibodies that may reduce the effectiveness of the administered factor.

In the event of significant trauma, unusual bleeding, or before surgical or dental procedures, advice from the specialist team is required.

The care of a child with haemophilia is provided by a specialist team that may include:

• paediatric haematologist;
• specialist nurse;
• physiotherapist;
• physical medicine physician or orthopaedic surgeon, if necessary;
• biologist specialising in haemostasis;
• geneticist;
• dentist;
• psychologist and/or social worker, according to the child’s needs.

This collaboration ensures disease control, prevention of joint complications, and support for the child and their family in everyday life.

Follow-up is organised according to age, disease severity and treatment. It notably includes:

• regular haematology consultations;
• clinical monitoring of bleeding episodes;
• biological monitoring adapted to the treatment;
• screening for inhibitors;
• regular assessment of joint and muscle health;
• gradual learning of home treatment when necessary;
• specific preparation for surgical and dental procedures;
• advice concerning sports, travel, school and daily activities.

Parents, and then gradually the child, also learn to recognise situations requiring urgent care.

During adolescence, the aim is to gradually enable the young person to manage their haemophilia independently.

This transition includes, in particular:

• understanding their condition and treatment;
• learning to self-administer treatment when necessary;
• knowing which situations involve risks;
• managing medication and equipment;
• preparing for travel, studies or sports activities;
• knowing whom to contact and which services to contact in an emergency.

The transition to an adult haematology team is prepared jointly with the young person, their family, and the paediatric and adult teams.

Haemophilia treatments have evolved considerably in recent years. The main areas of research include:

• long-acting treatments;
• non-replacement treatments;
• prevention of bleeding with treatments administered less frequently;
• gene therapy;
• prevention and treatment of inhibitors.

Possible participation in a clinical study is always discussed individually with the child and their family.