Haemophilia: Symptoms, Causes, and Types

Haemophilia is a rare genetic disorder that affects the blood’s ability to clot. Normally, when a person gets injured, proteins in the blood called clotting factors work together to stop bleeding. In people with haemophilia, one of these clotting factors is either missing or present at very low levels, leading to prolonged bleeding.

This condition is typically inherited, meaning it’s passed down through families. However, it can also occur due to a spontaneous genetic mutation. Haemophilia primarily affects males, though females can be carriers and sometimes experience mild symptoms.

While haemophilia has no permanent cure yet, medical advancements have made managing it much more effective. In this blog, we will define haemophilia, understand its causes, recognise key symptoms, learn about haemophilia types, and explore diagnosis and treatment options.

What is Haemophilia?

As mentioned before, haemophilia is a genetic disorder in which the body either lacks or has low levels of certain blood clotting factors. Normally, when a person gets injured, proteins in the blood called clotting factors work together to stop bleeding. In people with haemophilia, one of these clotting factors is either missing or present at very low levels, leading to prolonged bleeding.

This condition is typically inherited, meaning it’s passed down through families. However, it can also occur due to a spontaneous genetic mutation. Haemophilia primarily affects males, though females can be carriers and sometimes experience mild symptoms.

To define haemophilia, you must understand the disease’s symptoms, causes, and treatment options. Let’s have a look at it.

Haemophilia Symptoms

The severity of haemophilia symptoms depends on the amount of clotting factor present in the blood. Depending on the severity of the deficiency, symptoms may be noticed in infancy or later in life.

Common symptoms include:

• Heavy bleeding from cuts, injuries, dental procedures, or surgeries
• Frequent and unexplained nosebleeds
• Easy bruising with minor trauma
• Blood in urine or stool
• Swollen, painful joints due to internal bleeding
• Excessive bleeding following vaccinations
• Prolonged bleeding after childbirth or surgeries

Internal bleeding is a common symptom in severe cases of haemophilia.

Haemophilia Causes

Haemophilia is caused by a genetically defective gene located on the X chromosome. Since males have one X chromosome and one Y chromosome, inheriting a defective X chromosome means they are more at risk of having haemophilia. Since females have two X chromosomes, they are usually carriers unless both X chromosomes are affected (which is rare).

However, not all cases are inherited. It is believed that haemophilia cases also occur due to spontaneous mutations in cases without a prior family history.

Furthermore, there is also a rare condition called acquired haemophilia, which usually develops in adulthood when the immune system attacks clotting factors.

Types of Haemophilia

There are three main haemophilia types:

Haemophilia A (Classic Haemophilia)

It is caused by a deficiency of Factor VIII, which is a protein that plays a crucial role in the clotting process. It’s one of the many proteins that work together to form blood clots and stop bleeding when you’re injured.

Haemophilia B (Christmas Disease)

This type of haemophilia is caused by a deficiency of Factor IX. It (factor IX) is also a protein that works closely with other clotting factors, including Factor VIII, to form a stable blood clot and stop bleeding. It is less common but generally similar in symptoms to Haemophilia A.

Haemophilia C

A deficiency of Factor XI causes this type of haemophilia. It is very rare and usually milder, primarily affecting people of Ashkenazi Jewish descent.

Haemophilia Diagnosis

Early and accurate haemophilia diagnosis is crucial for managing the disease effectively. Here’s how haemophilia is diagnosed:

• Blood tests to measure clotting time.
• Specific assays to measure Factor VIII, IX, or XI levels.
• Genetic testing is done to see if there is a family history.

Doctors might suspect haemophilia in infants who have abnormal bleeding following procedures like circumcision or in children who bruise easily once they become mobile.

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Haemophilia Treatment

Haemophilia treatment mainly focuses on managing symptoms, preventing bleeding episodes, and protecting joints and other organs from damage. Thanks to medical advances, people with haemophilia today can live healthy, active lives if they receive the right care.

1. Replacement Therapy

Replacement therapy is the standard and most important treatment for haemophilia. In this approach, doctors inject the missing clotting factor directly into the patient’s vein.

Depending on the patient’s needs, there are two ways this can be done:

• Prophylactic Treatment: Patients regularly receive infusions of clotting factors (either Factor VIII for Haemophilia A or Factor IX for Haemophilia B) even when not bleeding. This helps prevent serious bleeding episodes, especially in the joints or muscles.
• On-Demand Treatment: In this approach, clotting factor infusions are given only when a bleed occurs. This is useful for milder forms of haemophilia, where bleeding is less frequent.

2. Non-Replacement Therapies

In recent years, new treatments have been developed that do not directly involve replacing missing clotting factors. For instance, gene therapy aims to correct the problem by introducing a working copy of the faulty gene into the patient’s body. Studies show that gene therapy can increase the body’s ability to produce clotting factors naturally, possibly offering a long-term solution. However, gene therapy for haemophilia is still being studied and is not a routine treatment everywhere.

3. Supportive Care

Supportive treatments help control bleeding and protect joints, but do not replace missing clotting factors. For instance, doctors may recommend physical therapy to keep your joints flexible, strengthen muscles, and prevent disabilities. Moreover, doctors may sometimes prescribe medicines like paracetamol to reduce pain caused by joint bleeds.

4. Lifestyle Modifications

In addition to medical treatments, certain lifestyle changes can greatly reduce the risk of bleeding:

• Avoid High-Risk Activities: Participate in swimming, walking, and cycling to avoid injuries.
• Use Protective Gear: Helmets, knee pads, elbow guards, and seat belts help prevent injuries during daily activities or sports.
• Good Dental Care: Regular brushing, flossing, and dental checkups prevent gum disease, which could otherwise lead to heavy bleeding during dental procedures.
• Healthy Diet and Exercise: A healthy weight reduces strain on joints, and strong muscles protect joints and reduce bleeding risk.

Living with Haemophilia

Living with haemophilia requires lifestyle adaptations and preventive care:

• Avoid contact sports to prevent injury.
• Maintain excellent dental hygiene to avoid dental surgeries.
• Carry medical identification stating the person has haemophilia.
• Educate friends, family, and schools about emergency care.
• Regular health checkups, especially joint evaluations, are vital.

Women who are planning pregnancy should consult a genetic counsellor and a haematologist to manage risks.

Conclusion

Haemophilia is a lifelong condition, but with early diagnosis, proper treatment, and regular monitoring, individuals can enjoy full and active lives. Research is bringing new hope, and in the future, a cure for haemophilia may become a reality.

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Frequently Asked Questions

What are the different types of haemophilia?

Haemophilia is classified into four types: haemophilia A, haemophilia B, haemophilia C, and acquired haemophilia. Types A and B are the most common, while types C and acquired haemophilia are rare. All types carry risks, but timely treatment can effectively manage the conditionp/li>

Which deficiency leads to haemophilia?

Haemophilia A and B are caused by a deficiency of clotting factors VIII and IX, respectively. This deficiency results in prolonged bleeding, which can happen with or without injury. Managing bleeding episodes is the primary goal of treatment.

Can haemophilia be prevented?

Since haemophilia is a genetic disorder, it cannot be prevented. However, patients can reduce bleeding risks by avoiding certain medications like aspirin and NSAIDs, and by following recommended safety measures.