What are the signs and symptoms of Sickle Cell Anemia?

←Back

The clinical course of sickle cell anemia does not follow a single pattern; some patients have, mild symptoms, and some have very severe symptoms. However, the basic problem is the same - the sickle-shaped red blood cells tend to get stuck in narrow blood vessels, blocking the flow of blood.

The presence of two defective genes (SS) is needed for sickle cell anemia. If each parent carries one sickle hemoglobin gene (S) and one normal gene (A), with each pregnancy, there is a 25 percent chance of the child's inheriting two defective genes and having sickle cell anemia; a 25 percent chance of inheriting two normal genes and not having the disease; and a 5 0 percent chance of being an unaffected carrier like the parents.

This results in the following conditions:

• Hand-foot syndrome. When the small blood vessels in the hands or feet are blocked, pain and swelling can result, along with fever. This may be the first symptom of sickle cell anemia in infants.
• Fatigue, paleness, and shortness of breath are all symptoms of anemia, or a shortage of red blood cells.
• Pain that occurs unpredictably in any body organ or joint, wherever the sickled blood cells block oxygen flow to the tissues. The frequency and amount of pain varies. Some patients have painful episodes (also called crises) less than once a year, and some have as many as 15 or even more episodes in a year. Sometimes the pain lasts only a few hours; sometimes it lasts several weeks. For especially severe, ongoing pain, the patient may have to be hospitalized and treated with painkillers and intra-venous fluids. Pain is the principal symptom of sickle cell anemia in both children and adults.
• Eye Problems: When the retina, the "film" at the back of the eye that receives and processes visual images, does not get enough nourishment from circulating red blood cells, it can deteriorate. Damage to the retina can be serious enough to cause blindness.
• Yellowing of the skin and eyes: These are signs of jaundice, resulting from the rapid breakdown of red blood cells.
• Delayed growth and puberty in children and often a slight build in adults: The slow rate of growth is caused by a shortage of red blood cells.
• Infections: In general, both children and adults with sickle cell anemia are more vulnerable to infections and have a harder time fighting them off once they start. This is the result of damage to the spleen from the sickled red cells which prevents the spleen from destroying bacteria in the blood. Infants and young children, especially, are susceptible to bacterial infections that can kill them in as little as 9 hours from onset of fever. Pneumococcal infections used to be the principal cause of death in young children with sickle cell anemia until physicians began routinely giving penicillin on a preventive basis to infants who are identified at birth or in early infancy as having sickle cell anemia.
• Stroke: The defective hemoglobin damages the walls of the red blood cells, causing them to stick to blood vessel walls. This can result in the development of narrowed or blocked, small blood vessels in the brain, causing a serious, life threatening stroke. This type of stroke occurs primarily in children.
• Acute chest syndrome - a life threatening complication of sickle cell anemia, similar to pneumonia that is caused by infection or trapped sickled cells in the lung. This is characterized by chest pain, fever, and an abnormal chest x-ray.