What is Hemophilia? Know about the genetic disorder, complications and to manage common co-occurring condition

We spoke to Dr. Sudha Sinha, Clinical Director & HOD, Medical Oncology, Senior Consultant Medical Oncology & Hematology, CARE Hospitals, HITEC City, Hyderabad, who explained us about Hemophilia, which is an inherited condition passed on from a parent to their children. 

Blood cannot clot normally in people with haemophilia, a genetic disorder. People who have haemophilia lack or do not have a certain protein in their blood that aids in blood clotting. They consequently tend to bleed more frequently than usual or extremely easily. According to which protein is absent, there are 2 primary forms of haemophilia (designated "A" and "B"): Deficiencies in factors VIII and XI are associated with haemophilia A and B, respectively. Knowing if you have haemophilia A or B is crucial since your course of therapy will change. 

A genetic disorder
Hemophilia is an inherited condition passed on from a parent to their children. The genes for producing factor VIII and Factor XI are on chromosome X. Since males have only one X chromosome, they are more likely to develop severe symptoms from haemophilia than females. Females either have mild or no symptoms but can be silent carriers of this condition.

Common symptoms and complications:
Based on the clotting factor in the blood, Hemophilia is categorized as mild, moderate or severe. Knowing this information helps the doctor predict complications and advise the patient on care and treatment. Some common issues faced by haemophilia patients include:

• Bleeding: is the most common complication. It can occur spontaneously for no reason at all if the factor levels are very low. Patients can bleed into their joints, muscles and internal organs, which can cause pain, swelling and damage to the
•  affected area. Based on the site of the bleeding patients may have symptoms like joint pains, muscle pains, bleeding in urine, bleeding in bowel movement, and abdominal pain from bleeding the belly.
• Joint damage: repeated bleeding into the joints can lead to damage and arthritis causing chronic pain and immobility. 
• Chronic pain due to repeated bleeding episodes can significantly impact quality of life, making it difficult to perform daily activities and have a productive life. 
• Infection Risk: Patients with hemophilia are at increased risk of developing infections, especially if they have received blood or plasma products.

Treatment

How severe a person's haemophilia is will determine how they are treated. Additionally, it depends on whether the patient will undergo a procedure or surgery.

Factor replacement therapy: This gives the body what it lacks regarding clotting factor. There are two ways to employ replacement therapy:

• To stop bleeding regularly 
• To treat a bleed as it occurs

Emiczumab - This is a medication that works by mimicking the action of factor VIII and bypasses the need for Factor VIII replacement therapy. It is also useful in patients who develop inhibitors to factor VIII. While it is available in India, cost is a prohibitory factor in its use.

Inhibitors in Hemophilia Patients: Some patients develop “inhibitors” in their blood, which interfere with clotting factor replacement therapy. These inhibitors prevent the clotting factor from working properly. This can make it more difficult to control bleeding, as higher doses of clotting factor may be required to overcome the inhibitory effect. This can result in more frequent and severe bleeding episodes, increasing the risk of complications such as joint damage and infections. Managing this can be challenging and requires specialized care from health care providers experienced in the treatment of this condition.

Hemophilia in India:
It is rare in India, and it is estimated that around 20000 people are living with the condition in the country. Unfortunately, many people with Hemophilia in India face significant challenges in adequate treatment and care. Several factors contribute to this, including a lack of awareness and understanding of the condition among health care providers, limited access to appropriate diagnostic and treatment facilities and high treatment costs. As a result, many people with haemophilia in India do not receive the care they need, which can lead to significant health problems.

Living with Hemophilia
Living with hemophilia can be challenging, but with proper care and management, individuals with the condition can lead normal and active lives. Some important aspects to consider are: 

• Treatment: Talk to the haematologist on the dose and frequency of clotting factor replacement therapy to prevent bleeding episodes, considering individual needs, lifestyle and preferences
• Injury prevention: Avoid high-impact sports, wearing protective gear when playing or using sharp tools.
• Plan ahead of any procedures or surgery that could cause bleeding.
• Eat a healthy, vitamin- and mineral-rich, balanced diet. Avoiding foods and supplements like alcohol and herbal supplements that can prevent blood clotting is crucial.
• Not take Aspirin or any painkillers without advice of a doctor.