Sickle cell disease (SCD) is one of the most common hereditary genetic blood disorder in the world as it was estimated to affect more than 6 million people and 300 000 newborns each year in (data from 20151((Vos, T., Allen, C., Arora, M., Barber, R. M., Bhutta, Z. A., Brown, A., … & Boufous, S. (2016). Global, regional, and national incidence, prevalence, and years lived with disability for 310 diseases and injuries, 1990–2015: a systematic analysis for the Global Burden of Disease Study 2015. The lancet, 388(10053), 1545–1602.)) ). It could be even more nowadays as from 2010 to 2050, the number of children born with sickle cell disease is expected to grow by 30–50% around the world.
Recognized by the WHO as a public health problem2, sickle cell disease affects the protein that enables RBCs to carry oxygen: hemoglobin. The hemoglobin mutated in sickle cell disease polymerizes under conditions of stress or without oxygen, forming fibers that render the RBC sickle-shaped. These RBCs are more fragile (causing anemia), less deformable and more adhesive; they therefore tend to obstruct blood vessels; this is known as vaso-occlusion. The vaso-occlusive crisis (VOC) is unpredictable and extremely painful for the patient, degrading his or her state of health by causing organ failure, and can be fatal.
SCD affects patients beyond their physical symptoms. The Sickle Cell World Assessment Survey or SWAY3 interrogated more than 2000 patients all around the world to better understand the physical, psychological and economical impact of SCD on the daily life of patients.
Current treatments for SCD (drugs, bone marrow transplants, blood transfusions, gene therapy) aim to prevent the onset of vaso-occlusive crisis, but are costly, have severe side-effects, and some are inaccessible or ineffective in half of all patients.
What doctors say about their difficulties in treating their patients
A low-cost, easy-to-use device capable of predicting the onset of a vaso-occlusive crisis would enable the implementation of crisis-avoidance strategies, or the development of single-dose drugs to block the onset of a crisis before it occurs.
- Piel, F. B., Hay, S. I., Gupta, S., Weatherall, D. J., & Williams, T. N. (2013). Global burden of sickle cell anaemia in children under five, 2010–2050: modelling based on demographics, excess mortality, and interventions. PLoS medicine, 10(7), e1001484 [↩]
- World Health Organization (2006) Fifty-ninth World Health Assembly: resolutions and decisions, annexes. WHA59/2006/REC/1. Geneva: World Health Organization. [↩]
- Osunkwo, I., Andemariam, B., Minniti, C. P., Inusa, B. P., El Rassi, F., Francis-Gibson, B., … & James, J. (2021). Impact of sickle cell disease on patients’ daily lives, symptoms reported, and disease management strategies: Results from the international Sickle Cell World Assessment Survey (SWAY). American Journal of Hematology, 96(4), 404–417. [↩]