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Abnormal hemoglobin that causes the red blood cells to change shape (looking like a sickle) and become sticky and hard. As a result, these cells do not survive as long as healthy red blood cells. This means individuals with Sickle Cell Disease face red blood cell shortages. The change in shape of the cell may also clog blood vessels and cause pain ("What Is Sickle Cell Disease?"). The average life expectancy is early 50s, and symptoms include anemia, pain crises, swelling in hands and feet, frequent infections, growth delay, and problems with vision ("Sickle Cell Anemia").

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The Importance of Understanding this Disease:

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The Importance of Understanding this Disease:

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Understanding this disease is essential because it can help us know what we can do, whether we have the disease or not. Individuals who know how it is diagnosed, know to get the blood test to find out if they have it. Individuals who understand treatment options are can make an informed decision about how to treat the disease for themselves, or they can help advise others. Individuals who have the disease can understand the risk factors and what to avoid. Individuals who are not personally affected by it can help spread awareness and knowledge to education others on the facts about Sickle Cell Disease ("Sickle Cell Disease Home"). For all these reasons, it is important that the general population understands the disease.

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The trait that is present in individuals with Sickle Cell Disease is HbAS. The disease manifests when offspring inherits a hemoglobin "S" (rather than hemoglobin "A") from both parents ("What Is Sickle Cell Disease?"). If the child only inherits the trait from one parent, their body will make both normal and sickle cells. This means that have Sickle Cell Disease but typically do not have the severe symptoms ("Sickle Cell Anemia").

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Sickle Cell Disease affects about 100,000 Americans, occurring in 1/365 Black or African-American children and 1/16,300 Hispanic-American children ("Data & Statistics on Sickle Cell Disease").

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An individual can be diagnoses with Sickle Cell Disease using a blood test. It is normally discovered doing routine newborn screenings and is immediately treated. Treatment is often directed towards the managing the symptoms that are a result of the disease. For example, blood transfusions and pain medication. A stem cell transplant is the only FDA-approved treatment that has the potential to cure Sickle Cell Disease ("What Is Sickle Cell Disease?").

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According to new research, stem cell gene therapy has the potential to be a curative treatment for Sickle Cell Disease. CRISPR-Cas9 was used to edit genes in stem cells from patients, increasing fetal hemoglobin production. This can replace sickled hemoglobin and prevent complications from the disease. The study resulted in patients who received edited stem cells reporting less vessel blockage, something that often occurs in patients due to the changed shape of the blood cells (Niewijk).

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New study shows promising evidence for sickle cell gene therapy

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UChicago Medicine Comer Children's Hospital was one of three sites to enroll patients in a clinical trial to test a potentially curative stem cell gene therapy for sickle cell disease. The results were promising.

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California Institute for Regenerative Medicine

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Defeating Sickle Cell Disease with Stem Cells + Gene Therapy: Stem Cells in Your Face, Episode 2

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Centers for Disease Control and Prevention (CDC)

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Kids with SCD can miss an incredible amount of school | Stories of Sickle Cell: Dr. Lauren Smith