by Kimberly Allen, RN
Sickle cell disease (also called sickle cell anemia) is a blood disorder that is inherited. It is a condition that affects mostly people of African descent, however, it also develops in other ethnic groups. There are over 70,000 Americans with sickle cell disease and approximately 2 million Americans that have the sickle cell trait. Sickle cell disease is an autosomal recessive disorder which means it requires 2 abnormal genes, one from each parent. Those that inherit 1 gene are carriers which is called having the sickle cell trait.
In sickle cell disease, there are not sufficient healthy red blood cells available to carry oxygen throughout the body. Normal red blood cells are round and flexible allowing them to move easily through the blood vessels. In a person that has sickle cell disease the red blood cells are sticky and rigid. They are shaped like crescent moons or sickles thus the name sickle cell. Because the red blood cells are sticky, rigid and irregularly shaped they tend to get stuck in the smaller blood vessels which slows and can even block the blood flow which in turn slows or blocks the oxygen from reaching parts of the body. This can cause significant pain as well as cause damage to muscles, organs and bones in your body.
Usually the symptoms of sickle cell disease manifest after an infant has reached 4 months of age. The major symptom is anemia. Normal red blood cells have a life span of 120 days, then they die and are replaced by new red blood cells. In a person with sickle cell disease, the red blood cells affected only have a life span of 10-20 days. Because they die off so quickly there are not enough new red blood cells to replace them which leaves them with a chronic shortage of red blood cells to deliver oxygen throughout their body, which in turn leads to chronic fatigue as well as other symptoms of anemia. People with sickle cell disease also experience episodes of severe pain. These are known as sickle cell crises and occur because the sickle cells have gotten stuck and blocked the blood flow throughout the small blood vessels located throughout areas of the body including the chest and abdomen as well as the joints. Some people even need to be hospitalized in order to manage the crisis. One of the first symptoms a parent may notice in an infant is swollen hands and feet caused by the sickle cell red blood cells obstructing the blood flow in and out of their hands and feet. People with sickle cell disease are also more prone to infection because the spleen which helps to fight infection tends to become damaged by the sickle cells. Children with sickle cell also tend to experience slowed growth and delayed puberty in teenagers. Another problem that some people with sickle cell disease have is with the tiny blood vessels in their eyes. If those blood vessels become blocked by the sickle cells the retina can be damaged causing vision problems.
Currently the only potential cure for sickle cell disease is a bone marrow transplant. However, this is a very serious procedure that carries serious risks including potential death. Because of this treatment for sickle cell disease usually focuses on avoiding crises, relieving symptoms and preventing complications. People with sickle cell disease need to see their doctor regularly to have their blood checked and their overall health monitored. Some doctors will recommend that children with sickle cell disease start taking penicillin when they’re 2 months old until they are at least 5 years old to help prevent serious infections like pneumonia. For adults with sickle cell disease the doctor may recommend a medication called hydroxyurea which can help decrease the need for blood transfusions and reduce the frequency of crises. Because hydroxyurea increase your chances of developing an infection it is only recommended for adults. There have also been some concerns raised that long-term use on this medication may cause leukemia or tumors in some people. Your doctor will be able to help you decide if this medication will benefit you.
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.