Sickle Cell Anemia

Hemoglobin is the protein in red blood cells that takes oxygen from the lungs and brings it throughout the body. Sickle cell anemia is an inherited hemoglobin disorder, in which a genetic mutation causes red blood cells to become misshapen. It is developed if both parents pass the hemoglobin S gene to their offspring.

Hemoglobin S causes cells to sickle and this brings about many problems, including high risk for infections, organ damage, and blood flow blockages. When the blood cells sickle, the blood can’t move freely causing a blockage in the blood flow to the rest of the body. Over a period of time, this blockage of blood cells can cause organ damage.

There can be many different symptoms caused by blockage of blood flow. Some of these symptoms include pain episodes known as pain crises, swelling of hands and feet, infections, vision problems, stunted growth in adolescents, and infections. As the disease progresses, symptoms typically worsen and damage progresses because the blood cells sickle more.

Sickle cell anemia can be diagnosed by checking the hemoglobin subtypes within the blood and accessing for the presence of hemoglobin S. There are various options for tests, such as, prenatal screening, newborn screening, and blood or genetic tests. It is crucial to diagnose sickle cell early as it can help prevent serious, future complications.

As of now, there is no cure for sickle cell anemia, but new gene therapies being created may help cure this disease in the future. However, there are treatments that aim to better the quality of life of the patients by relieving symptoms and preventing the complications. There are several different treatment methods including medications and stem cell transplants, but the severity of sickle cell disease varies by patients and this plays a role in determining which treatments will be best. Some preventative measures that can be taken include getting vaccinated and regular health checkups.

There has been a significant advancement in the treatment of sickle cell anemia: gene therapies! In December 2023, the FDA approved two gene-based treatments. Phase one of a clinical trial showed that gene therapy is safe. Following the successful outcome of phase one in this trial, phase two began in 2024. These trials are done with funding from then Heart, Lung, and Blood Institute. Despite these treatments being expensive, they appear very promising for the future of those dealing with sickle cell anemia.

Written by Jordyn Poplawski Reviewed by Mallory Kane MD

References:

1. Biology Online. Diffusion Definition and Examples - Biology Online Dictionary. Biology

   Articles, Tutorials & Dictionary Online. Published March 18, 2022.

   https://www.biologyonline.com/dictionary/diffusion

2. Matta N. Meth Addiction: Signs, Effects, and Treatment. American Addiction Centers.

   Published August 23, 2024. https://americanaddictioncenters.org/stimulants/meth

3. NHLBI. Sickle Cell Disease Research | NHLBI, NIH. www.nhlbi.nih.gov. Published

   September 12, 2022. https://www.nhlbi.nih.gov/research/sickle-cell-disease

4. National Heart, Lung, and Blood Institute. Sickle Cell Disease - What Is Sickle Cell Disease?

   www.nhlbi.nih.gov. Published September 30, 2024.

5. National Heart, Lung, and Blood Institute. Sickle Cell Disease - Diagnosis | NHLBI, NIH.

   Published July 15, 2022. https://www.nhlbi.nih.gov/health/sickle-cell-disease/diagnosis