Sickle Cell Disease

Rare Disease Highlight: Sickle Cell Disease

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Rare Disease Highlight

Sickle cell Disease (SCD) is the most common severe monogenic disorder that is characterized by misshapen red blood cells (RBC) that affects approximately 100,000 Americans 1. SCD arises due to a mutation in the hemoglobin S gene (HbS), a protein molecule in RBC that is responsible for transporting oxygen throughout the body 2. The mutation arises from a mismatch in the amino acids of the HbS protein causing the RBC to clump together and form a sickled shape.  SCD is an autosomal recessive disorder where patients inherit either two copies of the mutated HbS gene, known as sickle cell anemia or where only 1 copy of the HbS gene is inherited, known as sickle cell carriers. Patients who are carriers of the disease are known to have a genetic advantage over their anemic counterparts as they are protected by malaria 3. Signs and symptoms of SCD can vary, however common side effects include bone pain, chest pain, shortness of breath, delayed growth and development, and cardiac issues 4. Currently only Haemopoietic Stem Cell Transplantation (HSCT) is the only approved cure for SCD. This therapy works by removing stem cells from a healthy patient’s bone marrow and transferring it to SCD patients. However, finding a matching transplant donor can be very difficult. Other treatment options include Hydroxyurea (HU) however, it is associated with many side effects including nausea, skin toxicity, rashes etc 4. SCD is still a major public health disease worldwide and despite current practices more innovative treatment is needed in order to expand the life of patients with the disease.

References

  1. Data & Statistics on Sickle Cell Disease. (2019, October 21). Retrieved August 28, 2020, from https://www.cdc.gov/ncbddd/sicklecell/data.html
  2. Rees, D. C., Williams, T. N., & Gladwin, M. T. (2010). Sickle-cell disease. The Lancet. https://doi.org/10.1016/S0140-6736(10)61029-X
  3. Ashley-Koch, A., Yang, Q., & Olney, R. S. (2000). Sickle hemoglobin (Hb S) allele and sickle cell disease: A HuGE review. In American Journal of Epidemiology. https://doi.org/10.1093/oxfordjournals.aje.a010288
  4. AS, A. (2014). Management of Sickle Cell Disease: A Review for Physician Education in Nigeria (Sub-Saharan Africa). Anemia.

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