PK Deficiency

Pyruvate kinase (PK) deficiency is a rare genetic metabolic disease that affects red blood cells (RBCs).

More particularly, it is a type of lifelong haemolytic anemia where the deficiency of the pyruvate kinase enzyme results in the premature destruction of RBCs. This causes a decrease in haemoglobin leading to anaemia.

PK is the enzyme responsible for the final step of glycolysis – the metabolic pathway by which red blood cells obtain their energy supply.

While the disease affects everyone differently, people with PK deficiency often experience severe fatigue which heavily impacts their daily activities and quality of life.

As a result of under or misdiagnosis, occurring due to a lack of awareness, diagnostic challenges and a high number of mildly affected patients, the frequency of the disease cannot be precisely defined. The prevalence of diagnosed PK deficiency in a general Western population is estimated to be the range of 3.2-8.5 per million, whilst overall disease prevalence (diagnosed and undiagnosed) may be as high as 51 per million population[1].

Common supportive treatments for PK deficiency include blood transfusions, removal of the spleen and medications to remove excess iron from the blood (i.e. chelation therapy).

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TIF & PK Deficiency

  • Acknowledging the similarities of thalassaemia with other rare anaemias, particularly those affecting red blood cells (e.g. PKD, SCD);
  • Noting the absence of disease-specific united internationally coordinated patient organizations to guide and fulfil the educational and advocacy needs of these patient communities and;
  • Being aware that patients of other inherited haemolytic anaemias are members of national thalassaemia associations in various countries;

TIF has felt the ethical obligation to include in its educational and advocacy programmes other rare anaemias and to share the Federation’s expertise, infrastructure and resources thus providing assistance and support to the wider patient community and healthcare professionals working in the field of non-malignant haematology.

Find out more:

[1] Storm, M., Secrest, M. H., Carrington, C., Gilroy, K., Pladson, L., Boscoe, A. N., & Casso, D. (2019). Prevalence of Red Cell Pyruvate Kinase Deficiency: A Systematic Literature Review.

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