World Haemophilia Day 2024: Why Mumbai experts feel there is insufficient awareness about the blood disorder

Living with a bleeding disorder is not easy. If you are home-bound, it may be easier because you have access to the necessary equipment around you. However, if you are travelling, it can pose a challenge and become difficult to deal with due to lack of immediate facilities.

Every year, World Haemophilia Day is observed on April 17 to raise awareness about the genetic blood disorder. It was first observed in 1989 on April 17 to honour Frank Schnabel, who founded the World Federation of Haemophilia (WFH) in 1963, on his birthday. The Canadian businessman, who suffered from severe Haemophilia A, helped many people suffering with the disorder and the day is marked to pay tribute to his efforts.

This year, the theme is ‘Equitable access for all: Recognising all bleeding disorders'. According to the WFH, it focuses on the need for access to care for people who have inherited bleeding disorders, regardless of its type, their gender, age or where they live. While the disorder is genetic, Mumbai doctors believe a lot can be done to treat it as well as keep it in check.

With the day celebrated earlier this week, mid-day.com spoke to Dr Rituja Ugalmugle, who is the consultant physician at Wockhardt Hospitals Mumbai Central, and Dr Santanu Sen, consultant, to paediatrics, paediatric haematology, oncology and stem cell transplantation at Kokilaben Dhirubhai Ambani Hospital. Ugalmugle and Sen not only dissect the disorder but also help with solutions on how people suffering from it can deal with it, and put the onus on their friends and family, as well as civic authorities to help make their lives easier.

What is Haemophilia and how is it caused?
Ugalmugle: Haemophilia is a genetic disorder where blood doesn't clot properly, leading to prolonged bleeding. It is caused by a deficiency in clotting factors, usually factor VIII (haemophilia A) or factor IX (haemophilia B).

Sen: This deficiency occurs due to mutations in the genes responsible for producing these clotting factors, which are located on the X chromosome. Haemophilia is therefore inherited in an X-linked recessive pattern, meaning it predominantly affects males, as they have only one X chromosome.
Females are typically carriers of the mutated gene and may experience mild symptoms, while males with haemophilia exhibit more severe symptoms. Haemophilia can range from mild to severe, depending on the level of clotting factor present in the blood.

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What is the incidence of Haemophilia in India and the world? What is the age group of people who can suffer from haemophilia?
Sen: The incidence of haemophilia varies globally, with estimates suggesting that approximately 1 in 5,000 to 1 in 10,000 males worldwide are born with haemophilia A or B. In India, the prevalence is estimated to be around 1 in 5,000 to 10,000 males. However, due to underreporting and limited access to healthcare, the actual prevalence may be higher.

Haemophilia primarily affects males, as it is an X-linked recessive disorder, meaning males have only one X chromosome. Females can be carriers of the gene but typically do not exhibit symptoms.

People with haemophilia are often diagnosed at birth or in early childhood, as symptoms typically manifest during infancy or early childhood. However, the severity of the condition can vary, and individuals with milder forms of haemophilia may not be diagnosed until later in life, especially if they experience minor bleeding episodes or injuries.

Overall, haemophilia affects individuals of all ages, but the majority of cases are diagnosed during childhood.

What are the challenges of a person suffering from Haemophilia?
Ugalmugle: The challenges for people with haemophilia include spontaneous bleeding into joints and muscles, which can lead to chronic pain, joint damage, and disability. Additionally, there is a risk of life-threatening bleeding, especially after injury or surgery.

Sen: Beyond bleeding, managing bleeding episodes requires access to specialised medical care and clotting factor replacement therapy, which can be costly and inaccessible in some regions.

Additionally, people with haemophilia may encounter social stigma and discrimination due to misconceptions about their condition, leading to limited educational and employment opportunities. They may also struggle with mental health issues such as anxiety and depression, stemming from the constant fear of bleeding episodes and the impact on their quality of life.

Furthermore, the lifelong nature of Haemophilia requires continuous monitoring and management, which can disrupt daily activities and place a significant burden on individuals and their families. Overall, haemophilia presents multifaceted challenges that require comprehensive support and care to improve outcomes and quality of life for those affected.

What are some other bleeding disorders seen in India?
Sen: In addition to haemophilia, several other bleeding disorders are commonly seen in India. Von Willebrand Disease (VWD) is one such disorder, characterised by a deficiency or dysfunction of von Willebrand factor, a protein involved in blood clotting. VWD can result in prolonged bleeding, easy bruising, and mucosal bleeding.

Another bleeding disorder is thrombocytopenia, which is characterised by a low platelet count in the blood. Platelets play a crucial role in blood clotting, and a low count can lead to excessive bleeding or bruising. In fact, low platelets due to a disease called Idiopathic Thrombocytopenic Perpura(ITP) is one of the common bleeding disorders seen in India.

Additionally, disorders of coagulation factors, such as deficiencies in factors II, V, VII, X, XI, and XIII, can also lead to bleeding problems. These disorders may be inherited or acquired and can vary in severity.

Overall, these bleeding disorders pose significant health challenges and require specialised diagnosis and management to prevent complications and improve quality of life for affected individuals in India.

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Do you think there is enough awareness about Haemophilia in India?
Ugalmugle: The awareness about haemophilia varies, but generally, it is considered insufficient. Many people may not be aware of the condition, leading to delayed diagnosis and treatment.

Sen: While there is lack of awareness, it is particularly pronounced in India. In many parts of the world, including India, Haemophilia is often underdiagnosed and poorly understood, leading to delayed or inadequate treatment for affected individuals.

In more developed countries, efforts have been made to increase awareness through public health campaigns, patient advocacy groups, and educational initiatives targeting healthcare professionals and the general public. However, in India, limited access to healthcare, especially in rural areas, as well as cultural taboos surrounding blood disorders, contribute to lack of awareness and understanding about Haemophilia.

Moreover, misconceptions and stigma surrounding Haemophilia persist in many societies, further hindering efforts to raise awareness and promote early diagnosis and treatment. Overall, while progress has been made in increasing awareness globally, there remains a significant need for greater awareness and education about Haemophilia, particularly in regions like India.

How can family and friends help those suffering from Haemophilia?
Ugalmugle: Family and friends can support those with haemophilia by educating themselves about the condition, providing emotional support, helping with practical tasks, and encouraging adherence to treatment plans.

Sen: Family and friends serve as crucial sources of support for individuals grappling with haemophilia. Their emotional support, marked by empathy and understanding, offers comfort during challenging times. Practical assistance with daily tasks, such as household chores and transportation, eases the burden on those with haemophilia, enhancing their quality of life.

Educating themselves about haemophilia enables family and friends to provide informed support and advocacy within their community. Promoting safety measures and encouraging adherence to treatment plans are vital aspects of supporting individuals with haemophilia. By advocating for protective measures during physical activities and ensuring consistent medication adherence, loved ones contribute to their overall well-being.

Creating a supportive environment characterised by love and acceptance is essential. By fostering understanding and empathy, family and friends empower individuals with haemophilia to navigate their condition with confidence and resilience. Ultimately, the unwavering support of loved ones plays a pivotal role in enhancing the lives of those affected by haemophilia, enabling them to live fulfilling and meaningful lives despite the challenges they face.

What should a person suffering from Haemophilia always have in their bag?
Ugalmugle: A person with haemophilia should always have their treatment supplies, such as clotting factor concentrates, bandages, and emergency contact information, in their bag.

Sen: A person suffering from haemophilia should always carry a "bleeding disorder emergency kit" in their bag. This kit typically includes the following items:
Factor Replacement Medication: This medication, such as recombinant clotting factor concentrates or plasma-derived clotting factor concentrates, is essential for treating bleeding episodes and preventing complications.

Sterile Dressings: Sterile gauze pads or bandages are necessary to apply pressure to wounds and stop bleeding.

Adhesive Bandages: These can be used for minor cuts or scrapes to prevent further bleeding and protect the wound.

Tourniquet: In case of severe bleeding, a tourniquet can be applied above the wound to restrict blood flow and control bleeding temporarily.

Medical Alert Card: A card indicating the individual's diagnosis of haemophilia, along with emergency contact information and specific treatment instructions, can be crucial for medical professionals in case of emergencies.

Contact Information: It is essential to have contact information for healthcare providers, haemophilia treatment centres, and emergency services readily available.

Pain Relief Medication: Over-the-counter pain relievers such as acetaminophen (paracetamol) can help alleviate pain associated with bleeding episodes.

By ensuring they have these items readily available in their bag at all times individuals with haemophilia can be better prepared to manage bleeding episodes and emergencies effectively, improving their safety and well-being.

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What are the treatment options available for haemophilia?
Ugalmugle: Treatment options for haemophilia include regular infusions of clotting factor concentrates to prevent or treat bleeding episodes, as well as medications to manage complications like joint pain and swelling.

Sen: Haemophilia, is typically managed through various treatment options aimed at preventing and controlling bleeding episodes. The primary treatment for haemophilia involves replacing the deficient or missing clotting factor in the blood. The two main types of treatment for haemophilia are:

Clotting Factor Replacement Therapy: This treatment involves infusing clotting factor concentrates derived from either human plasma or through recombinant technology. These concentrates contain the specific clotting factors deficient in individuals with haemophilia. Factor replacement therapy can be administered on-demand to treat bleeding episodes or as prophylaxis to prevent bleeding.

Desmopressin (DDAVP) Therapy: Desmopressin is a synthetic hormone that stimulates the release of von Willebrand factor and factor VIII from storage sites in the body. It is primarily used to treat mild haemophilia A and von Willebrand disease and can be administered through injection or nasal spray.

In addition to these primary treatment options, other supportive measures may be utilised to manage haemophilia, including:
Gene therapy: Emerging treatments involve gene therapy techniques aimed at correcting the underlying genetic defect responsible for haemophilia. These therapies hold promise for providing long-term relief from the condition.

Management of complications: Management of complications associated with haemophilia, such as joint damage and chronic pain, may involve physical therapy, pain management strategies, and orthopaedic interventions.

Emergency treatment: In cases of severe bleeding episodes or trauma, immediate medical attention and supportive measures such as administering clotting factor concentrates, applying pressure to the bleeding site, and using tourniquets may be necessary.

The choice of treatment depends on various factors, including the severity of haemophilia, the individual's medical history, lifestyle factors, and treatment preferences. A comprehensive treatment plan tailored to the individual's needs is essential for effectively managing haemophilia and optimising quality of life.

Why should people be concerned with haemophilia and take it seriously?
Ugalmugle: Haemophilia is a serious condition that can have significant impacts on quality of life and life expectancy, if not properly managed. Early diagnosis, appropriate treatment, and support services are essential for improving outcomes and minimising complications.

Sen: People should be concerned about haemophilia and take it seriously because it is a potentially life-threatening bleeding disorder that can significantly impact the health and well-being of affected individuals. haemophilia can lead to prolonged bleeding after injuries or surgeries, spontaneous bleeding into joints and muscles, and other serious complications if not properly managed.

Without timely treatment, individuals with haemophilia are at risk of developing chronic pain, joint damage, and disability due to recurrent bleeding episodes. Moreover, severe bleeding episodes, particularly into vital organs or the brain, can be fatal.

Additionally, haemophilia requires lifelong management and specialised care, including regular monitoring, treatment with clotting factor replacement therapy, and adherence to safety precautions to prevent injuries and bleeding episodes.

Raising awareness and taking haemophilia seriously can help ensure timely diagnosis, access to appropriate treatment and support services, and the implementation of preventive measures to improve outcomes and quality of life for individuals with haemophilia. Furthermore, by understanding and addressing the challenges faced by those with haemophilia, society can work towards creating a more inclusive and supportive environment for all individuals living with this condition.

Disclaimer: This information does not replace professional medical advice. Consult a qualified specialist or your physician for personalised guidance.