Haemophilia

Patients and Parents

Home Patients and Parents Know Your Conditions Haemophilia

Introduction

Haemophilia is a genetic bleeding disorder that affects the body’s ability to form blood clots. This condition is caused by a deficiency in certain clotting factors, which are proteins in the blood that help stop bleeding. Individuals with haemophilia have a reduced ability to form clots, which can lead to prolonged bleeding after injury or surgery and an increased risk of internal bleeding.

Mode of Inheritance

There are two main types of haemophilia: haemophilia A and haemophilia B. Haemophilia A is caused by a deficiency in clotting factor VIII, while haemophilia B is caused by a deficiency in clotting factor IX. Both types of haemophilia are inherited in an X-linked recessive pattern, which means that the gene responsible is located on the X chromosome. It is a rare condition that primarily affects males, although females can also be carriers of the gene without symptoms. Haemophilia A is the more common form of haemophilia, affecting approximately 1 in 5,000-10,000 males worldwide. Haemophilia B is less common, affecting approximately 1 in 25000-30000 males worldwide.

Signs and Symptoms

The severity of haemophilia can vary from mild to severe, depending on the level of clotting factor present in the blood. The higher the level of clotting factor, the less severe the symptoms of haemophilia. Symptoms of haemophilia typically include prolonged bleeding after an injury or surgery, spontaneous bleeding into joints and muscles, and easy bruising.

Diagnosis

Diagnosis of hemophilia involves a combination of medical history, physical examination, and laboratory tests. Here are some common steps in the diagnosis of hemophilia:

Medical history: Doctors will ask questions about the patient’s personal and family medical history, including any history of bleeding disorders or excessive bleeding. They will also ask about any medications the patient is taking, as some medications can increase the risk of bleeding.
Physical examination: The doctor will perform a physical examination to look for signs of bleeding or bruising, including joint pain or swelling.
Blood tests: Blood tests are used to measure the levels of clotting factors in the blood. A clotting factor assay can determine the level of clotting factors VIII and IX in the blood, which can help diagnose hemophilia A or B, respectively. In addition, a complete blood count (CBC) can help detect anemia or other blood abnormalities.
Genetic testing: It can confirm the diagnosis of hemophilia and determine the specific gene mutation responsible for the condition. This test involves analyzing a blood sample to detect changes in the genes that produce clotting factors VIII or IX. Family cascade screening can be provided to related family members for reproductive planning.

Treatment and Management

Treatment for haemophilia involves factor replacement therapy to infuse the missing clotting factor. These clotting factor concentrates are made from human blood plasma or genetically engineered cells. The frequency and dosage of clotting factor infusions depend on the severity of the haemophilia. This can be done on a regular basis to prevent bleeding episodes (prophylaxis) or on an as-needed basis to treat bleeding episodes as they occur.

In recent years, there have been advances in the treatment of haemophilia, including the development of longer-acting clotting factor products, non-factor therapies, and the use of gene therapy to correct the underlying genetic defect.

Follow-up and Daily Care

One of the most significant challenges facing individuals with haemophilia is the risk of bleeding into joints and muscles, which can cause significant pain, swelling, and joint damage over time. This can lead to a condition called haemophilic arthropathy, which can severely impact mobility and quality of life.

To prevent joint damage, individuals with haemophilia are often advised to participate in low-impact exercise and physical therapy to improve joint mobility and strength. They may also be prescribed medication to manage pain and inflammation.

In addition to physical complications, haemophilia can also have significant psychological and social impacts. Individuals with haemophilia may experience anxiety and depression related to their condition, and they may face stigma and discrimination due to misconceptions about the condition.

Despite these challenges, many individuals with haemophilia are able to lead fulfilling and productive lives with appropriate medical care and support. Ongoing research into new treatments and therapies for haemophilia gives hope that for improved outcomes and less complications for individuals with haemophilia in the future.

Comprehensive care model for haemophilia in Hong Kong

Child and adolescent patients with haemophilia in Hong Kong are managed under a territory-wide network model of shared-care, where routine drug prescribing or emergency care are supported by the paediatric units close to their homes, and regular review on the overall care and management provided by paediatric haematology specialists at the Hong Kong Children’s Hospital.

The haemophilia and coagulation disorders clinic at the HKCH aims to provide one-stop access to multidisciplinary services, including sophisticated coagulation laboratory work-up, genetic diagnosis and counselling, allied health services for rehabilitation, joint health scores and joint assessment by dedicated physiotherapists, dental service, surgery for venous access device etc. The paediatric haematology team connects with patient support groups to address the psychosocial needs of patients and families. Ongoing research to improve treatments and management is supported by HKCH (e.g. sponsored clinical trials for new drugs conducted in collaboration with local universities).

References and Useful Resources

Acknowledgement

Principal author: Dr Grace Lam on behalf of Paediatric Haematology & Oncology Team, HKCH
Initial posting: Mar 2024