By: Nishita Kulkarni
By ANIRUDH from Unsplash
I. Introduction
Sickle cell disease is an inherited genetic blood disorder affecting the size and work of red blood cells (usually causing red blood cells to form a sickle shape-blocking blood flow) in the human body. This disorder is caused by a gene mutation, hemoglobin-Beta, on chromosome 11. Usually, this disease causes complications such as Anemia and a risk of infection.
II. Causes of Sickle Cell Disease
Sickle Cell Disease is inherited; to be born with the disease, the offspring would have to have inherited a copy of the gene from both parents. In this case, either both parents could have a sickle cell trait (carriers of the gene), or one parent has the disease while the other has the trait.
When one has sickle cell disease, they have an abnormal type of hemoglobin gene, dramatically impacting the red blood cells in that individual's body. The uncommon hemoglobin causes an altered shape and work of red blood cells, causing conditions like sickle cell anemia. This condition affects the capability of the blood cells to transport oxygen throughout the body; this deteriorating capability can cause symptoms like pain, organ damage, and even exhaustion, causing an overall impact on one's lifestyle and could affect one's lifespan.
III. Symptoms and Complications
Symptoms of Sickle Cell Disease are...
Jaundice (yellow pigmentation): Because sickle cells have shorter lives than usual blood cells, they die before the liver can filter them out, causing bilirubin from the broken-down cells.
Strokes: This occurs due to sickle cells blocking blood vessels that supply oxygen to the brain.
Acute Chest Syndrome (Deadly): This happens when the sickling occurs in the chest; the cells stick together, blocking oxygen flow in lung vessels.
Anemia: Occurs due to sickle cells' short lifespan = less red blood cells available, leading to Anemia.
Pain episodes: Severe periods of pain when sickle blood cells block blood flow.
Sickle cell disease can also increase the risk of infections because sickle-shaped blood cells can degrade the body's capability to fight infections, making individuals an easy target.
IV. Treatment and Care
Medications used for the treatment of Sickle Cell Disease are...
Hydroxyurea (first-line treatment) is an oral medicine that reduces sickling and prevents disease complications.
Voxelotor is a medication for sickle cell disease in adults and children over four years of age. It prevents the formation of sickle-shaped blood cells and their binding together, which can help lower the possibility of Anemia and improve blood flow to organs.
Crizanlizumab-tmca is a medicine given through the intravenous line in the vein. Its purpose is to prevent blood cells from sticking to the blood vessel wall, which, if not prevented, can have detrimental effects on the human body, including inflammation and blood flow blockages.
Blood transfusions are another aspect of the treatment of Sickle cell disease. They can help replace sickled blood cells with healthier ones. This replacement can improve the oxygen-carrying capacity, preventing certain complications that occur with the disease. Although blood transfusions can be beneficial, doing them often can be harmful, as they can cause an iron overload in the body, so one might want to use this treatment less frequently compared to medications.
Bone Marrow transplants are another treatment option for individuals with sickle cell disease. This approach replaces the defective bone marrow with healthy bone marrow donated by a donor. The healthy bone marrow produces red blood cells with regular hemoglobin genes, which could cure the patient. However, bone marrow transplants are very risky and are only done for patients experiencing severe cases of the disease.
V. Current Research and Future Directions
Ongoing research is being conducted on gene editing techniques such as CRISPR/Cas9, which can potentially advance the treatment of sickle cell diseases. Gene therapy also holds promise for treating sickle cell disease as it replaces defective genes with regular ones. It can address the disease's original cause, freeing individuals from this life-changing condition and improving their quality of life.
VI. Conclusion
Sickle Cell disease is an inherited blood disorder that affects 20 million people worldwide. The disorder affects hemoglobin, a protein in red blood cells that carries oxygen in the body. This disease can cause many serious complications and has a significant impact on patients, families, and healthcare systems. Overall, raising awareness of this illness is crucial to ensure that many individuals can detect it early and receive access to care and support during their struggle with the condition.
Works Cited
John Hopkins Medicine. "Sickle Cell Disease." Johns Hopkins Medicine Health Library, 2024, www.hopkinsmedicine.org/health/conditions-and-diseases/sickle-cell-disease.
National Heart, Lung, and Blood Institute. "Sickle Cell Disease - Treatment ." National Heart, Lung, and Blood Institute, 15 July 2022, www.nhlbi.nih.gov/health/sickle-cell-disease/treatment.
National Human Genome Research Institute. "About Sickle Cell Disease." Genome.gov, 26 May 2020, www.genome.gov/Genetic-Disorders/Sickle-Cell-Disease#:~:text=Sickle%20cell%20disease%20is%20caused.
NHS. "Sickle Cell Disease - Causes." Nhs.uk, 23 Oct. 2017, www.nhs.uk/conditions/sickle-cell-disease/causes/#:~:text=To%20be%20born%20with%20sickle.