Sickle Cell Disease, commonly referred to as Sickle Cell Anemia, is a blood disease which red blood cells form an abnormal sickle or crescent shape. Red blood cells carry oxygen to the body and are normally shaped like a disc. This disease is genetically inherited from both parents. If you inherit the sickle cell gene from only one parent, you will have sickle cell trait. People with sickle cell trait do not have the symptoms of sickle cell anemia. Sickle cell disease is much more common in people of African and Mediterranean descent. It is also seen in people from South and Central America, the Caribbean, and the Middle East.
Sickle cell anemia is caused by an abnormal type of hemoglobin[->0] called hemoglobin S. A single cell causes this disease. Hemoglobin is a protein inside red blood cells that carries oxygen. The fragile, sickle-shaped cells deliver less oxygen to the body’s tissues, and also get stuck more easily in small blood vessels, as well as break into pieces that can interrupt healthy blood flow. These problems decrease the amount of oxygen flowing to body tissues even more, sometimes causing a crisis. A crisis is a painful episode, sometimes lasting from hours to days, of pain in the back, long bones and the chest.
These episodes often start after four months of age, usually lasting until death. In young children these episodes include, attacks of abdominal pain, fatigue, jaundice, rapid heart rate, shortness of breath and paleness. As a person grows older with the disease, small blood vessels may become blocked by the abnormal cells causing painful and prolonged erection commonly known as priapism, poor eyesight or even blindness, problems thinking or confusion caused by small strokes, and ulcer on the lower legs of adults and adolescents.
Usually a person with the disease will sooner or later lose their spleen and have other symptoms and infections that cause discomfort and pain. There are many tests used to help diagnose and monitor people with the disease such as a complete blood count (CBC), Bilirubin, (used to screen blood), blood oxygen levels, serum creatinine and potassium, and of course, sickle cell test. People with the sickle cell trait can never get the disease. They don’t have any of the symptoms except anemia which is usually treated with vitamins with extra iron.
On a personal note, I have the Sickle Cell trait. I have been known all my life about the trait and the disease. I inherited the trait from my mother’s side of the family. My father’s side does not carry the trait. My mother’s family is also from the West Indies, and my father’s family is not. When I married my first husband, (whom I remarried a few months ago after twenty years), I realized that that he that had the sickle cell trait as well as myself. We tried and did not have any children.
Twenty years later, we have decided to have a child. With the advancements in science, we discovered that with in vitro fertilization, we can take my eggs and his sperm and fertilize them and since every one in four has a 25% chance of having the disease, we will take the one healthy egg and produce a healthy child and discard the three infected with the genetic trait. It is an expensive, yet healthy choice for our child to live a normal, healthy, happy life disease free. In conclusion, genetics make us who we are.
If not for the different diseases, and other traits we receive from our parents, and their parents and many generations before, science would not be so advanced to look for cures and treatments for our many ailments and problems. Dominant or recessive, we are who we are. Genes.
1. Rees DC, Williams TN, Gladwin MT. Sickle-cell disease. Lancet. 2010;376(9757):2018-2031. 2. Lee MT, Piomelli S, Granger S, et al. Stroke prevention trial in sickle cell anemia (STOP): extended follow-up and final results. Blood. 2006;108:847-852. 3. Brawley OW, Cornelius LJ, Edwards LR, Gamble VN, Green BL, Inturrisi C, et al. National Institutes of Health consensus development conference statement: hydroxyurea treatment for sickle cell disease. Ann Intern Med. 2008;148:932-938. 4. Geller AK, O’Connor MK. The sickle cell crisis: a dilemma in pain relief. Mayo Clin Proc. 2008;83:320-323. Review Date: 2/7/2012. Reviewed by: Yi-Bin Chen, MD, Leukemia/Bone Marrow Transplant Program, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A. D. A. M. Health Solutions, Ebix, Inc [-;0] – http://www. ncbi. nlm. nih. gov/pubmedhealth/n/pmh_adam/A003645/