What is sickle cell disease?

Updated: Dec 15, 2019

"Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape" ("Sickle cell disease", 2019). Signs and symptoms of SCD are caused when the red blood cells sickle. "When red blood cells sickle, they break down prematurely, which can lead to anemia" ("Sickle cell disease", 2019). Some symptoms of SCD are painful episodes (crisis), anemia, fatigue, shortness of breath, jaundice, frequent infections, and swelling among other symptoms. Painful episodes can occur when sickled red blood cells, which are stiff and inflexible, get stuck in small blood vessels ("Sickle cell disease", 2019). Some more severe symptoms are stroke, organ damage, pulmonary hypertension, blindness, avascular necrosis, hand-foot syndrome, splenic sequestration, delayed growth, skin ulcers, acute chest syndrome, and priaprism, among other symptoms ("Sickle Cell Anemia: Types, Symptoms, and Treatment", 2019).


Sickle cell disease affects millions of people worldwide. It is most common among people whose ancestors come from Africa; Mediterranean countries such as Greece, Turkey, and Italy; the Arabian Peninsula; India; and Spanish-speaking regions in South America, Central America, and parts of the Caribbean. Sickle cell disease is the most common inherited blood disorder in the United States, affecting 70,000 to 80,000 Americans. The disease is estimated to occur in 1 in 500 African Americans and 1 in 1,000 to 1,400 Hispanic Americans ("Sickle Cell Anemia: Types, Symptoms, and Treatment", 2019).


Sickle cell disease is caused by mutations in the hemoglobin subunit beta (HBB) ("Sickle cell disease", 2019). "SCD is an autosomal recessive condition. You need two copies of the gene to have the disease. If you have only one copy of the gene, you are said to have sickle cell trait" ("Sickle Cell Anemia: Types, Symptoms, and Treatment", 2019). There are many types of sickle cell disease. They are hemoglobin SS, SC, SB+ beta thalassemia, SB 0 beta-zero thalassemia, and sickle cell trait ("Sickle Cell Anemia: Types, Symptoms, and Treatment", 2019). Hemoglobin SS is the most common type of SCD. Diagnosis of SCD usually occurs at birth. However, some people are diagnosed later in life.


Living with SCD is difficult to say the least. We often have to manage sickle cell crisis which can be caused by over exertion, changes in temperature, dehydration or poor hydration, high altitudes, and other illnesses (common cold, flu, etc.). Sickle cell crisis can occur anywhere in the body and can be mild to severe. More severe crisis are usually treated at the hospital where they are better equipped to treat them. Pain crisis is the most common symptom of sickle cell disease. They may affect some patients more than others.


It is important to know the basics of sickle cell disease to better understand what people with SCD goes through and how you could help make their lives easier (by donating blood, supporting,etc.). It is also important to know your sickle status, so you'll know if it affects you (and possibly your future children). You can find out more by visiting https://www.nlm.nih.gov/ and typing sickle cell disease in the search bar. Get informed and learn how you can help!




Sources:


Sickle cell disease - Genetics Home Reference - NIH. (n.d.). Retrieved December 4, 2019, from https://ghr.nlm.nih.gov/condition/sickle-cell-disease#:~:targetText=Sickle cell disease is a,sickle, or crescent, shape.


Sickle Cell Anemia: Types, Symptoms, and Treatment. (2019). Retrieved 4 December 2019, from https://www.healthline.com/health/sickle-cell-anemia


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