10 Things About Sickle Cell Disease

Sickle cell disease is the most common genetic blood disorder. Sickle cell disease is a genetic condition that occurs when a child receives a sickle cell trait from each parent. According to the Centers for Disease Control and Prevention, sickle cell disease affects about 100,000 people in the United States. It also affects millions of people worldwide and is most common in African, Mediterranean and Arabian Peninsula areas.
It affects many races, not just African Americans. While sickle cell disease is more common in African Americans (occurring in about 1 in 365 African American birth), it is still present in other racial populations including about 1 in 1,200 Hispanic Americans.
Hemoglobin SS is the most common type of sickle cell disease. There are many different types of sickle cell disease, but Hemoglobin SS type is the most common and is also called sickle cell anemia. It occurs when a person inherits a Hemoglobin S sickle trait from each parent.
Specialized blood tests (Hemoglobin Electrophoresis and a CBC) are needed to confirm whether or not you have sickle cell trait or sickle cell disease. These tests look to see what type(s) of hemoglobin you make and if your hemoglobin level is low (aka anemia).
Sickle cell disease causes red blood cells to “sickle” or become banana shaped when they are stressed, and this can make it difficult for them to flow through blood vessels. Normal red blood cells are round and flexible and can move easily through blood vessels, but some of the cells in patients with sickle cell disease become crescent moon shaped and stick to blood vessels. This slows or can stop blood flow through blood vessels, which can cause pain, damage to organs and tissues, or even lead to a stroke.
Some people with sickle cell disease need blood transfusions. Doctors can transfuse red blood cells from a matched blood donor without sickle cell disease or sickle cell trait to treat a patient with sickle cell disease.
You can help by becoming a blood or bone marrow donor. Because patients with sickle cell disease occasionally need blood transfusions, you can sign up to donate blood here, or join the bone marrow registry donation here. The only proven cure for sickle cell disease is a bone marrow transplant.
Gene therapy studies for sickle cell disease are underway.Gene therapy may have the potential to cure patients with sickle cell disease without requiring a donor.
Breathing problems are very common in children with sickle cell disease. Breathing issues are under-recognized in children with sickle cell disease but very common. These can include such things as asthma, sleep problems, and recurrent pneumonia. Nationwide Children's Hospital has a special pulmonary sickle cell clinic to help evaluate and treat these problems.
There are four medications that can change the course of sickle cell disease. Hydroxyurea is the primary treatment because it can reduce many complications and mortality in people with sickle cell disease. Crizanlizumab is an IV medication to reduce pain episodes and L-glutamine is an oral medication to reduce pain episodes, whereas Voxelotor is an oral medication to increase hemoglobin.