Haemophilia is a genetic disorder with an incidence of 1 per 4000 births and is inherited. Haemophilia occurs due to a faulty gene located on the X arm of the chromosome. Female chromosomes have two XX arms, hence, they are carriers and very rarely affected by the bleeding disorder. The symptoms manifest as spontaneous or trauma-induced haemorrhagic episodes in patients, progressing to chronic disability and premature mortality in untreated patients. The lifesaving treatment of Haemophilia can be a lifelong regimen. It can be burdensome, expensive, and sometimes ineffective due to certain factors. But a revolutionary approach may soon change that: gene therapy.
Benefits of gene therapy in Haemophilia
Gene therapy represents a new therapeutic method that is being investigated in clinical trials for the treatment of haemophilia. Gene therapy aims to correct the underlying genetic defect by delivering a working copy of the faulty gene into the patient’s cells. For haemophilia, this means using a modified virus—typically an adeno-associated virus (AAV)—to carry and insert a healthy gene into liver cells, enabling them to produce clotting factor naturally. This treatment method enables the longest possible rise in clotting factor, with the result that bleeds do not occur even after clotting factor replacement therapy has ended.
Need for gene therapy in Haemophilia
Bleeding disorders (haemophilia and Von Willebrand disease) reportedly affect 1 in 5,000 men and women globally. New cases appear in the population through the birth of offspring with haemophilia to carrier females, and through new mutations. Haemophilia cases arise through spontaneous mutation. Scientists in India have reported success with using gene therapy to treat severe haemophilia, a condition resulting from a faulty gene which triggers severe, spontaneous, and potentially fatal bleeding episodes. For patients and families, gene therapy offers hope for a near-normal life. Adults with haemophilia B saw their number of bleeding episodes drop by an average of 71 per cent after a single infusion of gene therapy.
The impact: A potential game changer
For patients and families, gene therapy offers hope for a near-normal life. Gene Therapy offers fewer hospital visits, less pain, and more freedom in physical activity can dramatically improve quality of life. From a healthcare perspective, a one-time treatment could also reduce the long-term financial burden of managing haemophilia, which can cost a significantly large sum annually per patient.
The prevention of haemophilia needs to be addressed on a priority basis. A different approach is likely needed for Haemophilia treatment. Gene therapy for haemophilia, as compared to previous treatments, raises the prospect of significantly lower bleeding rates and, to a great extent, freedom from haemorrhage. For individuals living with haemophilia and their families, it’s a beacon of hope, turning what was once a lifelong burden into a potentially manageable condition, or even a thing of the past.