What You Should Know About Sickle Cell Disease
Most people have heard of sickle cell disease, but do most understand exactly what having the condition entails? Sickle cell disease is an inherited red blood cell disorder characterized by abnormal hemoglobin, a protein within red blood cells that carries oxygen to the tissues of the body.
Sickle cell is an inherited disease caused by a genetic mutation in the globin gene, which controls hemoglobin production. Genes are found on structures in the cells of our body called chromosomes. There are normally 46 chromosomes, arranged in 23 pairs, in each cell of our body. The eleventh pair of chromosomes contains a gene responsible for normal hemoglobin production.
A mutation, or error, in this gene is what causes sickle cell disease. There are many of these mutations that are thought to have originated in areas of the world where malaria was common, because the gene for sickle cell disease protects those who have it from getting malaria, which is carried by mosquitoes. Malaria is most often seen in Africa and in the Mediterranean area of Europe.
There are many different types, including Hemoglobin (Hb) SS, HbSC, HbS-Beta Thalassemia, etc. and symptoms can vary depending which type you have. Sickle cell trait is not a type of sickle cell disease – having the trait simply means that the person carries one abnormal (S) hemoglobin gene. If two people have the sickle cell trait and they have a child together, they have a 1 in 4 chance of their child having sickle cell disease. Hemoglobin SS disease is the most common type and generally the one with the most severe symptoms.
Most people who think they have sickle cell disease may experience the following:
- Anemia, which is caused by a lack of healthy red blood cells. Severe anemia can make a child pale and tired, and makes the child’s ability to carry oxygen to the tissues more difficult.
- Pain crisis, or sickle crisis, occurs when blood flow is blocked to an area because the sickled cells have become stuck in the blood vessel. The pain can occur anywhere, but most often occurs in the chest, arms, and legs. Painful swelling of the fingers and toes, called dactylitis, can occur in infants and children under 3 years of age. Priapism is a painful sickling that occurs in the penis.
- Acute chest syndrome occurs when sickled cells block the flow of oxygen in the tiny vessels in the lungs. It often occurs suddenly, when the body is under stress from infection, fever, or dehydration. It resembles pneumonia and can include fever, pain, and a violent cough.
- Splenic sequestration (pooling) crises happen when sickle cells pool in the spleen. This can cause a sudden drop in hemoglobin and can be life-threatening if not treated promptly. The spleen also can become enlarged and painful from the increase in blood volume.
- Stroke can occur when sickle cells block the major blood vessels that supply the brain with oxygen. Any interruption in the flow of blood and oxygen to the brain can result in devastating neurological consequences.
- Jaundice is a common sign and symptom of sickle disease. Sickle cells do not circulate in the body as long as normal red blood cells; therefore, they die more rapidly than the liver can filter them out.
Even though a cure for all types of sickle cell anemia is still in the works, patients with the diagnosis can still live a healthy life as long as they take good care of themselves. It is important to follow up with your doctor regularly, to take medicines as prescribed and to seek medical care immediately if there are signs of a fever, stroke, bad jaundice and severe pain (especially chest pain).
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