Raising awareness about haemophilia

April 17 is World Haemophilia Day; the bleeding disorder affects one in 5,000 male children

Haemophilia is an inherited genetic bleeding disorder that prevents blood from clotting properly and eventually leads to an individual’s death. It affects one in every 5000 male children due to an individual’s inability to make specific clotting factors in the blood.

April 17 is celebrated as World Haemophilia Day to raise awareness about the disorder.

Although inherited bleeding disorders, including haemophilia, von Willebrand Disease, inherited platelet disorders, and other clotting factor deficiencies, are among the rarer causes of illness, these are still all lifelong bleeding disorders.

Diagnosis and treatment

People who have haemophilia can experience uncontrolled internal or external bleeding resulting from even seemingly minor injuries. Usually, an alert parent notices a toddler having frequent bruising after falls in the first few years of childhood.

Spontaneous or provoked bleeding into large joints— especially knees, ankles and elbows—and muscles causes severe pain and disability to haemophiliacs while bleeding into major organs, such as the brain, can cause death.

The only treatment for this painful, disabling, and often life-threatening bleeding disease is administering the deficient clotting factor concentrates (CFC) periodically—usually one to three times a week—by intravenous injections.

Children, who receive these CFCs regularly, can lead normal, healthy lives with no fear of bleeding even while engaged in outdoor physical activities.

Challenges to treatment and severity of the illness

Access and availability of these clotting factor concentrates (CFC) is the biggest hurdle for treatment, as spending needs range from INR 40,000 to 50,000 every month, which is a challenge for most families.

Optimal care for people with haemophilia, especially those with severe forms of the disorder, requires costly treatment and comprehensive care provided by a multidisciplinary team of specialists.

A few philanthropic entities, such as Tata Trusts and other foundations, provide support in the form of grants for individual medical treatment; however, the need is for an organised effort to provide a better life for affected children and their families.

Despite advances in diagnostics, it is unfortunate that most of those living with bleeding disorders remain largely undiagnosed.

According to the World Federation of Haemophilia Annual Global Survey 2020, there have been only 241,535 patients identified and reported globally. In India, there are just about 24000 cases approximately, as per 2020 data on haemophilia.in.

It is pertinent to keep in mind that while those affected may be very few, their larger family is affected directly and indirectly by the resultant burden of caregiving and expenditure involved in the lifelong care and medication required.

A lack of awareness amongst parents and guardians would also impede early identification and diagnosis. Unless diagnosed, children, who are affected, cannot commence on their path to adequate and appropriate treatment.

If the required medicines are very costly, as they are, or access to drugs is restricted due to non-availability, then there can be little value for ad-hoc treatment. The challenge is to move from reactive management of bleeding secondary to injury to proactive prophylactic (meaning, in advance) management, leading the child to lead an almost normal life.

Without treatment, most children with severe haemophilia will die young or risk permanent disability due to the repeated episodes of bleeding that they will undergo over their lives. Untreated haemophilia also affects the employment and education of people, with bleeding disorders forcing them to miss school and work due to severe pain and/or joint damage.

Collaboration is key!

Collaboration and commitment of all relevant partners and stakeholders is essential to give patients a highly effective treatment protocol per World Federation of Haemophilia guidelines.

It is imperative that the government, public health institutions, NGOs, philanthropic agencies and the patient community actively seek a collaborative approach to ensure sustainable treatment for all as a part of Universal Health Coverage (UHC).

Funding and support for initiatives, such as those of the Haemophilia Federation (India), in making available treatment across select government centres pan India, needs to be encouraged by civil society and other stakeholders.

At the household level, individuals intending to plan a family should undergo screening and genetic counselling, especially if there have been instances of this disease in the family. This is necessary as women only tend to be carriers and can pass the disease to their sons without being affected themselves, while affected men can transmit the defective gene to their daughters, who may, in turn, become carriers.

Haemophilia is an inherited disorder that policymakers must address suitably through robust policy frameworks, with active support from civil society, followed up by the caregiver / patient community. Adequate funding from government and philanthropic sources for treatment programmes is essential to sustain any planned interventions.

(Inputs from Dr Sanjeevan)

Col (Dr) MP Cariappa is the Technical Advisor, Health Initiatives – Tata Trusts; Dr Sanjeevan is a graduate from AFMC Pune and a Consultant Haematologist trained at CMC Vellore.