Sickle cell anemia (SCA) is an inherited problem of the blood, where abnormally shaped red blood cells aren’t able to carry oxygen around to the different body parts properly. It is most common in people from Africa or of Mediterranean descent. It is a “recessive” condition meaning that both parents have to either carry the gene for it or suffer themselves from SCA. This means that there are people who can have children with SCA without having it themselves if they happen to have children with another “carrier” of the disease.

Red blood cells are what carry oxygen around our bodies to supply cells in all of our tissues like muscles, internal organs, and glands, etc. The oxygen is attached to a protein called “hemoglobin.” Normally red blood cells are round and flexible with a scooped out centre which allows them to squeeze around corners as necessary when they are traveling around the body. With SCA the hemoglobin inside the red blood cells is misshapen and this causes the cells to become sickle (crescent-like) in shape and rigid, making it hard or impossible for red blood cells to maneouver as they need to. These abnormal red blood cells tend to stick together and get stuck, depriving the body tissues of the oxygen that they need. Further, these sickled red blood cells don’t last as long as normal red blood cells, making the body “anemic,” where there are not enough red blood cells to go around.

It is thought that the reason why SCA has survived as a genetic mutation in the African and Mediterranean countries is because these sickled red blood cells are resistant to malaria over normal red blood cells. This means that people with SCA are to a certain extent protected from malaria which would otherwise possibly make them very sick and even die.

Symptoms from SCA are widespread as every part of the body is affected if the supply of oxygen is poor. Jaundice, which is a yellowing of the skin and whites of the eyes, is common. This is due to the breakdown of the abnormal red blood cells. A general feeling of fatigue happens with anemia, regardless of the cause. Muscle aches and pains, stomach aches and pains, and pains in the arms and legs are common with the sickled red blood cells getting caught as they stick together. These bouts of pain are referred to as “sickle cell crises,” and they can last from hours to weeks. Acute chest pain and problems breathing can sometimes happen in a sickle cell crisis as well. People with SCA have problems fighting infections and often do not grow as tall as they would have otherwise because of having the disease.

To diagnose SCA a special blood test is done. Sickle cell anemia cannot be cured, but its complications can be managed. Pain medications will help with the aches and pains. Antibiotics are often necessary in the repeated infections that people with SCA get. Genetic therapy is under investigation right now.

In summary, SCA is most common in people of Mediterranean or African descent. There is no cure, but people who are carriers of the gene can be offered genetic counseling when they go to have children. Experimental treatments are being investigated and there is always hope for better and more effective ways of dealing with SCA in the future.