When an injury turns fatal

In response to a damaged blood vessel, our body reacts immediately by clotting the wound and minimising blood loss. In the clotting process, blood platelets rush to the site and begin to produce chemicals which activate 13 different proteins — called clotting factors I to XIII — that bind in a complex mechanism. Fibrin, the final mesh forming protein, seals the clot.

We take for granted this automatic reaction of the body. However, sometimes genetic mutations occur within the body which tampers with the clotting process leading to a depletion of some protein factors. As a result, the blood loses its ability to clot completely, causing excessive bleeding — even from a little cut.

This rare condition is called Haemophilia. It is a type of bleeding disorder where the blood is deficient in factors VIII or IX. This genetically inherited defect, residing on the X chromosome, manifests as a disorder mostly in males, while females are carriers of the defective gene. They escape the affliction since they have another X chromosome to override the faulty one. The degree of deficiency varies from mild to moderate to severe, based on the level mutation in clotting factors.

As a result, haemophilia assumes a deadly situation wherein a small wound can lead to profuse bleeding. A bump on the head can start internal bleeding which can turn out to be fatal if not attended immediately. Currently, this disorder is incurable and is only managed. The typical symptoms include excessive bleeding from any part of the body or long-term damage to joints by repeated episodes of bleeding. Medical history, blood test and clotting factor analysis are the usual diagnosing methods.

According to a 2016 global survey, there are 3,00,000 known cases of haemophilia. However, lack of awareness of the disorder makes these figures obscure as thousands more go undiagnosed. According to an IJMR study of 2014, it is estimated that around 50,000 people in India could be haemophilic. The research also indicates that India lacks a national policy on the prevention and control of genetic diseases. Under such circumstances, awareness is the only resort and goes a long way in providing timely medical attention to the individual.

Frank Schnabel started the World Federation of Hemophila (WFH) in 1963. Schnabel, a haemophilic himself, was keen to spread awareness, improve the treatment and care to haemophiliacs through his organisation. Soon, WFH established a global network of healthcare providers, set up organisations in different countries, and brought together haemophiliacs and their families. In 1969, acknowledging WFH’s rigorous and noteworthy activities, WHO since then, is associating officially in their programmes.

It is only apt that WFH declared April 17 — Schnabel’s birthday — as World Haemophilia Day in 1989. This worldwide event sees workshops, and sensitisation camps held all over the world, where the public is informed about the disorder. WFH takes this opportunity to revive their commitment and reflect on the contributions of its members.

Championing the cause of haemophilia in India was late Ashok Bahadur Verma, again a haemophilic, who started the Haemophilia Federation of India (HFI) in 1983. Through his relentless efforts, he spearheaded programmes to not only spread awareness and reach out to the affected community, but also draw the attention of the policymakers and make them aware of the nature of the criticality of the disorder.

On Haemophilia Day 2015, the ministry of health and family welfare collaborated with FHI to participate in their workshops to spread awareness. The federation’s unrelenting efforts saw success in 2016 when the Central Board of Excise and Customs withdrew the customs duty levied on the import of the drug — Anti-Haemophilic Factor concentrate (VIII and IX). HFI caters to the welfare and needs of people with haemophilia, through 76 chapters across four zones. They aim to locate undiagnosed people with haemophilia, spread awareness, educate the afflicted and their families and provide medical care at optimal cost.

Currently, coagulation factor replacement therapy by blood infusion is the primary way to control haemophilia. However, the option comes with certain difficulties: one, this requires a regular treatment; two, it is an expensive treatment as India lacks drug manufacturers for such rare genetic diseases; and three, some individuals may react to therapy by developing inhibitors to the infusion.

At such times, the help of support groups is invaluable while preventive methods and immediate attention go a long way as a parallel approach. Safer choice of activities and training in RICE first aid technique — Rest, Ice, Compression and Elevation — is the key to manage the condition.