I would like to sincerely thank the Pernicious Anaemia Society, and in particular Katrina Burchell, Karyl Carter and Petra Visser, for their support, collaboration and commitment to advancing research in this field. Their enthusiasm for improving the understanding of Pernicious Anaemia has been instrumental in making this research possible. I am especially grateful to the many members of the Pernicious Anaemia Society community who generously shared their time, experiences and data by participating in the studies included in this thesis. I hope that this work contributes, even in a small way, to improving understanding of this often-overlooked and under-researched condition and to supporting better recognition, treatment, and management for those living with pernicious anaemia.
What was the research about?
Pernicious anaemia is often treated as a simple B12 deficiency with a standard treatment approach. However, many people report ongoing symptoms, differences in treatment response, and challenges with diagnosis and management.
My research aimed to better understand these differences and to explore the development of more personalised approaches to pernicious anaemia care.
What did I find?
1. Symptoms vary widely between people
One of the most important findings from this research is that pernicious anaemia does not affect everyone in the same way.
People experience a wide range of symptoms, including neurological, cognitive, and gastrointestinal symptoms, and these can differ greatly between individuals. One of the most important findings was that for many people, symptoms return or worsen before their next scheduled injection, highlighting a gap between current treatment schedules and real-life need.
We are currently preparing this work for publication, and one important finding is that different symptoms respond differently to treatment. Some symptoms improve quickly after an injection, while others take longer to respond or may not improve consistently. This challenges the common assumption that people feel better immediately after an injection, which, for many individuals, is not the case.
2. Different “response types” to treatment
Another key finding is that people appear to respond differently to vitamin B12 treatment. Some individuals experience clear improvement in symptoms following injections, while others report more limited or inconsistent benefit. This suggests that there may be different “response patterns” or subtypes of response to vitamin B12. This is important because it challenges the idea that a single treatment approach works equally well for everyone.
Better understanding these differences in symptoms and response is key to improving treatment and ensuring that care is better tailored to individual needs.
3. Iron deficiency is very common, often recurrent, and not well managed
The research found that iron deficiency is very common in people with pernicious anaemia, affecting more than half of the participants in the study.
Despite its high prevalence and impact, iron deficiency is not always routinely investigated, monitored, or effectively managed in clinical practice. Many individuals reported limited follow-up after treatment, and some did not receive further testing to confirm whether their iron levels had improved.
In addition, while oral iron is commonly prescribed, it is not always well tolerated or effective. Some individuals reported ongoing symptoms despite treatment, and relatively few were offered alternative options such as iron infusions when initial treatment did not work.
Overall, these findings highlight an important gap in care and suggest that iron deficiency is an under-recognised contributor to ongoing symptoms in people with pernicious anaemia.
4. Many people have other autoimmune conditions
Pernicious anaemia often occurs alongside other autoimmune diseases. In this research, a large proportion of participants reported at least one additional autoimmune condition, such as autoimmune thyroid disease or vitiligo. This supports the idea that pernicious anaemia is part of a broader autoimmune picture rather than an isolated condition.
Having multiple autoimmune conditions can make diagnosis and management more complex, as symptoms may overlap and different conditions may influence each other. It may also mean that people require more coordinated and individualised care across different areas of treatment and management.
Future work should aim to explore whether management approaches should differ between those with pernicious anaemia alone and those with additional autoimmune conditions.
5. Genetics may help explain differences between people
The PhD also explored genetic factors that influence the development of pernicious anaemia. Findings suggest that genetic differences play a role in both the risk of developing the condition and how individuals respond to treatment.
In particular, we found that individuals with a genetic tendency towards lower vitamin B12 were more likely to require more frequent injections. This provides evidence that differences in treatment needs are not simply subjective experiences but may have an underlying biological basis.
What does this mean for people with pernicious anaemia?
Overall, this research suggests that pernicious anaemia should not be viewed as a simple vitamin B12 deficiency and that a standard treatment approach is not appropriate for everyone. Instead, it appears to be a more complex autoimmune condition that varies between individuals in terms of symptoms, treatment response, and is associated with other health conditions, and long-term management needs.
Across this research, differences were seen in how people experience symptoms, how these symptoms change over time, and how individuals respond to treatment. In many cases, these patterns were consistent within individuals. Importantly, these findings also highlight that ongoing symptoms may not always be explained solely by vitamin B12. Factors such as iron deficiency and other autoimmune conditions may also play an important role and should be considered as part of a broader picture.
There was also evidence that longer delays before diagnosis may be associated with greater long-term treatment needs, highlighting the importance of earlier recognition and diagnosis.
Together, this suggests that current “one-size-fits-all” approaches to diagnosis, monitoring, and treatment do not fully reflect the reality of living with pernicious anaemia.
In practice this means:
- More personalised and flexible treatment approaches are required
- Ongoing symptoms should be recognised and taken seriously
- Improved investigation and monitoring of related conditions, such as iron deficiency is essential
- Greater awareness of pernicious anaemia as a complex autoimmune condition among healthcare professionals
What happens next?
This PhD represents a starting point rather than an end. Future work will aim to make care more flexible and better aligned with individual needs, including exploring more personalised vitamin B12 regimens and developing new models of care such as supported self-injection.
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