by Kimberly Allen R.N.
Sickle cell anemia also referred to as sickle cell disease, is an inherited blood disorder known as an autosomal recessive genetic blood disorder. This means that in order to develop sickle cell anemia you have to inherit two abnormal genes, one from each parent. Sickle cell anemis is the most common of the inherited blood disorders. It affects primarily African Americans as well as people from the Mediterranean, Saudi Arabia, Central and South America. There are over 70,000 Americans diagnosed with sickle cell anemia with African Americans being diagnosed at a rate of 1 in every 1500 births. Because sickle cell anemia is a recessive disorder there are more carriers than people diagnosed with sickle cell anemia which is called sickle cell trait. It is estimated that approximately 2 million Americans are sickle cell carriers including 1 in every 2 African Americans.
In sickle cell anemia it’s the hemoglobin that is affected. Hemoglobin is the sticky part of the red blood cell that carries oxygen throughout the body. When a person has sickle cell anemia the mutation causes an abnormal form of hemoglobin to be formed known as hbs. This abnormal from of hemoglobin increases the stickiness of the red blood cell. Normal red blood cells are disc shape and are very flexible, they can squeeze through the tiniest of blood vessels. Eventually the abnormal hemoglobin causes the red blood cells to loose its flexibility so as it tries to flex to navigate through the small blood vessels it becomes stiff and changes shape elongating into the shape of a “sickle” thus the name sickle cell anemia. As the red blood cells become misshapen they become unable to navigate the blood vessels, especially the small ones, and they begin to clog the blood vessels preventing the blood carrying oxygen and other nutrients throughout the body.
The symptoms of sickle cell anemia usually manifest by the time a baby is 4 months. Some of the first things you will notice are the symptoms of anemia. Normal red blood cells usually live 120 days before dying and needing to be replaced where as sickle cells are more fragile and only live 10-20 days before dying and needing to be replaced. Since the bone marrow produces new red blood cells at a specific rate there are no spare red blood cells to replace the dying ones creating a shortage of red blood cells or ‘anemia’. Another significant symptom of sickle cell anemia is periodic episodes of pain. As the sickle cells build up and block the blood vessels preventing oxygen to get through it causes pain. This pain can vary in intensity from very mild to severe and it can last from a few hours to as long as a few weeks. These episodes of pain are calledcrisises and may require hospitalization. Babies tend to have swollen hands and feet because the blood vessels in them are so tiny they become blocked easily preventing the blood from flowing out. Frequently a baby will not grow at the rate expected because the sickle cells prevent sufficient oxygen and nutrients that is needed to grow from being delivered.
The only potential cure for sickle cell anemia today is a bone marrow transplant. However, this is not as easy as it may sound, The first problem is finding a donor. Finding someone that is a match is very difficult. Then if that isn’t enough there are significant risks associated with bone marrow transplants. Therefore most of the time treatment involves managing the symptoms and controlling potential complications. Typically children diagnosed with sickle cell anemia are started on penicillin at 2 months until they’re 5 years of age to prevent common infections like pneumonia. Pain control during a crisis can usually be done with over the counter medications like acetaminophen or if needed your Dr may prescribe something else. Hydroxyurea is a medication that can decrease the need for blood transfusions and the frequency of crisises. Blood transfusions will increase the number of red blood cells in the blood stream to relieve the anemia.
Sickle cell anemia also causes alot of stress for parents and families. Finding a support group and learning about sickle cell anemia can help you to be aware of any new treatments and make appropriate health decisions.
Kimberly Allen is a registered nurse with an AND in nursing. She has worked in ACF, LCF and psychiatric facilities, although she spent most of her career as a home health expert. She is now a regular contributor to HealthAndFitnessTalk.com, dispensing advice and knowledge about medical issues and questions. You can reach her with any comments or questions at firstname.lastname@example.org.