How stem cell therapy can help women and girls with Haemophilia

For decades, it was believed that only men suffered from the symptoms of haemophilia, while women were only carriers who could pass on the disease to their male offspring, but were themselves immune to its effects. This belief was rooted in how haemophilia was passed on from one generation to the next, namely through the X chromosome. However, the fact is that women do suffer from the symptoms of haemophilia, namely in the form of heavy menstrual bleeding, joint pains, and easy bruising. These symptoms among women carriers were overlooked, leaving countless women misdiagnosed or escaping attention from medical experts entirely. Consequently, women carriers suffered in silence, unable to understand the reasons behind their symptoms.

With recent advances in stem cell treatments, these women needn’t suffer any longer. New treatments allow carriers of this disease to produce functional clotting factors, alleviating symptoms and, in some cases, offering a lasting solution to this disease.

Stem cell therapy tackling the genetic root of Haemophilia

Haemophilia arises due to mutations in the F8 or F9 genes. These genes are producing clotting factors, VIII or IX. Recently, scientists have made progress in how to use genetic engineering to transform hematopoietic stem cells (HSCs), which are cells that can be transformed into any type of blood cell, such that they produce functional clotting factors. As a result, once HSCs are genetically engineered, they can be reintroduced into a patient’s body to provide potentially lifelong relief from haemophilia to women carriers. This treatment has the potential to transform the lives of women carriers who exhibit moderate to severe bleeding,

Stem cell treatment as a preventive approach to chronic joint damage

Women carriers often suffer from internal bleeding in the joints, leading to significant debilitation. While this symptom is often underreported, it can severely crimp women’s lives. In an effort to mitigate the chronic joint pain caused by internal bleeding, scientists are studying Mesenchymal Stem Cells or MSCs. These cells possess significant regenerative and anti-inflammatory characteristics, which enable them to be used in repairing cartilage and synovial membranes, both of which are often damaged due to chronic bleeding. With robust progress underway, MSCs could help prevent or reverse joint damage in women and girls, significantly improving their quality of life, including mobility.

Reducing dependence on factor replacement therapy through stem cell treatment

Today, Haemophilia is most commonly treated through infusing clotting factor concentrates. This is a lifelong treatment which is not only physically exhausting for the patient but also financially costly, putting it beyond the reach of many households. In addition, it’s not uncommon for women who are suffering from hormone-related bleeding patterns to be misdiagnosed with haemophilia, which further complicates the impact of this mode of treatment. A growing body of research shows that stem cell therapy can reduce and perhaps even obviate the need for regular factor therapy. Scientists and researchers are conducting clinical trials using autologous stem cell treatments. If successful, these treatments will mean that patients will be able to produce their own clotting factors, leading to an easily accessible and permanent solution.

A customised treatment option enabled by stem cells

While women are primarily carriers of haemophilia, many have symptoms that are severe. These women’s symptoms are extreme enough for them to meet the criteria for haemophilia. Too many such women suffer without knowing why, since the existing medical protocols don’t account for these extreme cases. For these women, stem cell treatment offers hope because it allows for personalised treatment for each patient by considering their unique genetic and clinical profiles. Unlike the ‘one size fits all’ treatment methodology in place today, which dominates the treatment of haemophilia, stem cells lead to personalised treatments that account for everyone, including extreme cases.

Shaping a healthier generation ahead

People have been suffering from haemophilia for thousands, and likely, tens of thousands of years. Yet stem cell therapy presents an opportunity to not only treat those who are suffering today but also to transform the lives of future generations that would otherwise be afflicted with this disorder. As scientists continue making progress using promising techniques like stem cell treatment, refining methodologies and implementing them ethically, it’ll likely become possible to intervene early such that women never suffer the disease’s symptoms. The effect for women who inherit the gene will be transformative; they’d never experience symptoms or be restricted by what carriers before them have experienced for generations. With continuous progress, stem cell therapy will evolve into the primary treatment paradigm. Consequently, the treatment will not only transform millions of lives today, but also in the future, while also eliminating the social stigma associated with the disease. The result will be greater opportunities for women as well as more empowerment as they live lives without a bleeding disorder that has been with humanity since ancient times.

The promise of stem cell therapy in treating haemophilia is very real, ushering in a new era in healthcare. Crucially, this approach considers the disease’s impact on women, who until recently were considered carriers who were immune to the disorder’s effects. I believe that we’re at the cusp of a monumental moment in history where we could create a future where upcoming generations benefit from our actions today. I know that through our continued research and ethical implementation of medical science, we’ll shape a healthier and more empowered today and future.