Inherited blood disorder
September is National Sickle Cell Awareness Month, a time to remind us of the importance of screening for this inherited blood disorder. More than 90,000 Americans are currently suffering from this disease, according to the Centers for Disease Control and Prevention. It is most common among blacks although it can be found in other ethnic or racial groups. In a healthy individual, red blood cells are flexible and round, moving easily through the blood vessels. When someone has sickle cell disease, the red blood cells become rigid and sticky, often shaped like sickles or crescent moons. They don’t move well through the smallest blood vessels. This can stop or slow blood flow to parts of the body, causing less oxygen to reach these areas. The sickle cells also die earlier than normal blood cells, which can cause a shortage of red blood cells in the body. There is no cure for sickle cell but treatments can relieve the pain and prevent further problems.
Mutation in gene
Sickle cell disease is caused by a mutation in the gene that tells your body to make hemoglobin, the red, iron-rich compound that gives blood its red color. Hemoglobin allows red blood cells to carry oxygen from your lungs to all parts of your body. The sickle cell gene is passed from generation to generation in a pattern of inheritance called autosomal recessive inheritance. This means that both the mother and the father must pass on the defective form of the gene for a child to be affected. If only one parent passes the sickle cell gene to the child, that child will have the sickle cell trait. With one normal hemoglobin gene and one defective form of the gene, people with the sickle cell trait make both normal hemoglobin and sickle cell hemoglobin. Their blood may contain some sickle cells, but they generally don’t experience symptoms. However, they are carriers of the disease, which means they can pass the defective gene on to their children.
Seek immediate care
Although sickle cell disease is usually diagnosed at infancy, Dr. Robin Devan of UAMS’ Adult Sickle Cell Clinical Program says you should seek medical care immediately if you or your child develop certain problems. These can range from unexplained episodes of severe pain and swelling in the hands and feet to pale skin or a yellow tint to the skin or whites of the eyes. Sickle cells can get stuck in blood vessels and keep blood from reaching parts of the body. This causes pain and can damage the body’s internal organs. Blocked blood vessels in the arms, legs, chest or abdomen can cause strong pain. Children who have sickle cell disease might get more infections because their spleen is damaged by sickle cells. One of the spleen’s main jobs is to protect against infection, according to Dr. Devan. When sickle cells block blood flow to organs and cause pain and other problems, this is called a “sickle cell crisis,” or a “pain crisis.”
Can block blood flow
The pain commonly associated with sickle cell disease is just one of the problems this disorder can cause. A stroke can occur if sickle cells block blood flow to an area of the brain. The signs of stroke include seizures, weakness or numbness in the arms and legs, sudden speech difficulties, and loss of consciousness. People with sickle cell disease can also develop high blood pressure in their lungs. Shortness of breath and fatigue are common symptoms of this condition, which can be fatal. Sickle cells can block blood flow through blood vessels, immediately depriving an organ of blood and oxygen. In sickle cell disease, blood is also chronically low on oxygen. Chronic deprivation of oxygen-rich blood can damage nerves and organs in your body, including your kidneys, liver and spleen. The tiny blood vessels that supply your eyes can get blocked by sickle cells. Over time, this can damage the retinas, which process visual images, and lead to blindness.
There is no cure for sickle cell disease as of yet, but certain treatments can help relieve the disease’s symptoms and treat its complications. The goals of treating the disease are to relieve pain, prevent infections, organ damage and strokes and control complications if they occur. If the pain continues or becomes severe, stronger medicines called opioids may be necessary. A patient with sickle cell disease should talk with their physician about the risks of taking such medications, especially if the medicine will be used for a long period of time. Blood and marrow stem cell transplants may offer a cure for a small number of people with sickle cell disease. Infants who have been diagnosed with it after going through newborn screenings are treated with antibiotics to prevent infections. Their parents are then educated about the disease and how to manage it. These initial treatment steps have greatly improved the outcome for children who have the disease.
These programs were first broadcast the week of August 28, 2015.
T. Glenn Pait, M.D., of UAMS is the host of the program.