Understanding Haemophilia A and B: A Patient Guide

Haemophilia A and B are rare genetic conditions that affect the blood’s ability to clot properly. This guide explains the conditions, their causes, symptoms, treatments, and how to manage living with them.

What Are Haemophilia A and B?

Haemophilia is a bleeding disorder where the blood does not clot as it should due to a lack of specific clotting factors (proteins in the blood that help stop bleeding).

• Haemophilia A: Caused by a deficiency in clotting factor VIII.
• Haemophilia B: Caused by a deficiency in clotting factor IX.

Both conditions lead to prolonged bleeding after injuries or surgeries and, in severe cases, spontaneous bleeding without any obvious cause.

Background on Haemophilia

• History: Haemophilia has been recognised for centuries and is sometimes referred to as the “royal disease” due to its prevalence in European royal families. Advances in treatment have significantly improved outcomes for individuals with haemophilia.
• Global Impact: Haemophilia affects people worldwide and requires lifelong management to prevent complications.

Causes, Incidence, and Prevalence

Causes

Haemophilia is caused by mutations in the F8 gene (for haemophilia A) or the F9 gene (for haemophilia B). These genes are located on the X chromosome, which is why haemophilia primarily affects males. Females can be carriers of the condition and may have mild symptoms.

Incidence and Prevalence

• Incidence: Haemophilia A occurs in approximately 1 in 5,000 male births, while haemophilia B occurs in about 1 in 30,000 male births.
• Prevalence: Around 400,000 people globally live with haemophilia, with haemophilia A being more common than haemophilia B.

Who Is Affected?

1. Age of Onset: Symptoms usually appear in infancy or early childhood when a child begins to crawl or walk and experiences frequent bruising or bleeding.
2. Gender: Haemophilia primarily affects males due to its inheritance pattern, but females can be carriers or have mild symptoms if they inherit faulty genes from both parents.
3. Ethnicity: Haemophilia occurs across all ethnic groups equally.

Geographic Distribution

Haemophilia is found worldwide but may be underdiagnosed or undertreated in low-income countries due to limited access to healthcare.

How Does Haemophilia Impact You?

Symptoms

The severity of symptoms depends on how much clotting factor is present in the blood:

• Mild Haemophilia (5–40% of normal clotting factor): Bleeding may occur only after surgery or major injuries.
• Moderate Haemophilia (1–5% of normal clotting factor): Occasional spontaneous bleeding and prolonged bleeding after minor injuries.
• Severe Haemophilia (<1% of normal clotting factor): Frequent spontaneous bleeding into joints, muscles, or internal organs.

Common symptoms include:

• Excessive bruising.
• Prolonged bleeding after cuts, dental procedures, or surgeries.
• Painful swelling in joints due to internal bleeding (haemarthrosis).

Living With Haemophilia

Living with haemophilia involves managing bleeding risks and adhering to treatment plans. Regular medical care and support from family and healthcare providers are essential for maintaining quality of life.

Expected Life Expectancy

With proper treatment, individuals with haemophilia can live normal lifespans. However, untreated cases may lead to life-threatening complications such as severe internal bleeding.

Managing and Treating Haemophilia

Available Treatments

Treatment focuses on replacing the missing clotting factor and preventing complications:

1. Replacement Therapy:
   1. Regular infusions of clotting factor VIII (for haemophilia A) or IX (for haemophilia B). These can be derived from donated blood plasma or made synthetically (recombinant factors).

2. Preventive (Prophylactic) Treatment:
   1. Regular infusions are given even when no active bleeding occurs to prevent spontaneous bleeds, especially in children with severe haemophilia.

3. On-Demand Treatment:
   1. Clotting factors are administered during active bleeding episodes to stop the bleed.

4. Gene Therapy:
   1. Promising new treatments aim to correct the underlying genetic mutation responsible for haemophilia by introducing a functional copy of the faulty gene.

5. Other Medications:
   1. Emicizumab:A monoclonal antibody used for prophylaxis in haemophilia A.
   2. Antifibrinolytic drugs like tranexamic acid may be used alongside replacement therapy to stabilise clots.

Ongoing Clinical Research

Research into haemophilia continues to focus on improving treatments and finding potential cures:

1. Gene Therapy:Trials are underway for long-term solutions that could reduce or eliminate the need for regular infusions.
2. Longer-Acting Clotting Factors: Developing therapies that require less frequent dosing.
3. Non-Factor Therapies: Exploring alternatives like bispecific antibodies that mimic clotting factors.
4. For information on clinical trials related to haemophilia, visit gov.

Support Groups and Resources

If you have been diagnosed with haemophilia or are caring for someone with the condition, connecting with support groups can provide valuable information and emotional support:

1. The Haemophilia Society UK (org.uk) – Offers resources for individuals living with bleeding disorders in the UK.
2. World Federation of Hemophilia (WFH) (org)– Provides global advocacy for people with haemophilia.
3. National Hemophilia Foundation (NHF) (org)– Focuses on education and support for individuals affected by haemophilia.
4. Rare Disease UK (org.uk) – Supports individuals living with rare conditions like haemophilia.
   Remember:This information is intended for general knowledge and educational purposes only and does not constitute medical advice. It is essential to consult with a qualified healthcare professional for any health concerns or before making any decisions related to your health or treatment.