Sickle cell disease

Sickle Cell Disease

Sickle cell disease is a genetic disorder that directly impacts about 100,000 Americans

today. It is the most common inherited blood disorder in the United States. Sickle Cell disease causes red blood cells to form in the shape of a “c” instead of their normal round shape.

Sickle Cell disease is caused by a point mutation in the Hemoglobin-Beta (HBB) gene on chromosome 11 of the genome. The HBB gene has instructions for making hemoglobin, which is the part of the red blood cell that carries oxygen. The mutation that signifies sickle cell disease cause abnormal hemoglobin – S molecules to stick together in a rod-like formation. This distorts the shape of the red blood cell and causes them to pile up, blocking entry to the blood vessels.

The most common symptom of sickle cell disease in many patients is anemia. This is

why many people know the disease as “sickle cell anemia.” Along with these episodes of fatigue and weakness, patients with the genetic disorder experience frequent pain occurrences, inflamed joints, swelling of hands and feet, and sometimes jaundice.

This disease follows an autosomal recessive inheritance pattern. This means that two

copies of the mutated gene must be inherited to show the phenotype. If a child only inherits one copy of the mutated HBB gene, there is a 50% chance that they will be a carrier for sickle cell disease. A carrier is an individual who has one copy of the mutated gene and can pass it to their offspring, but they do not have the disease/ show the phenotype.

Sickle Cell disease is more prevalent in different areas of the world. People are more

likely to carry the mutated HBB gene if they descend from Africa, the Middle East,

mediterranean countries, south Asia, central or south America. The reason for this is because carrying the mutation for sickle cell disease protects against malaria in regions where this deadly disease is common. The only known cure for sickle cell disease at this time is a bone marrow transplant.

However, this process is very dangerous and puts patients at high risk for infection. Other treatments to reduce the symptoms of sickle cell include antibiotics, blood transfusions, and gene therapy. Sickle cell research is constantly advancing. There have been recent developments in using CRISPR (gene editing) technology as another possible cure for sickle cell disease in the

future.

References

“About Sickle Cell Disease.” Genome.Gov, www.genome.gov/Genetic-Disorders/Sickle-Cell-Disease. Accessed 17 Feb. 2026.

“What Is Sickle Cell Disease?” Cleveland Clinic, 13 Aug. 2025, my.clevelandclinic.org/health/diseases/12100-sickle-cell-disease. Accessed 17 Feb. 2026.