Sickle cell disease is an inherited disorder that occurs when a protein called hemoglobin is defective. Hemoglobin carries oxygen-rich red blood cells from the lungs to the rest of the body.
Normal blood cells are smooth, round, flexible and shaped like the letter O. With SCD, these cells can become stiff, sticky and shaped like the letter C. These sickle-shaped cells tend to cluster together, making it difficult for them to move through small blood vessels and stopping the movement of healthy, oxygen-carrying cells. Sickle cells can also damage the spleen, increasing the risk of bacterial infection.
The Dana-Farber/Boston Children's Sickle Cell Disease Program treats children and young adults with all types of sickle cell disease. Dana-Farber/Boston Children's is also home to one of the largest and most experienced pediatric stem cell transplant centers in the world. Stem cell (bone marrow) transplant is currently the only cure for sickle cell disease.
At Dana-Farber/Boston Children's, all children with sickle cell disease and other serious blood disorders are assigned a social worker to help manage the challenges of ongoing treatment. Social workers provide emotional, psychological and logistical support to patients and families from diagnosis to adulthood.
There are several types of sickle cell disease:
HbSD, HbSE and HbSO are rare types of SCD, with symptoms similar to HbSS.
SCD primarily affects children of African descent and Hispanics of Caribbean ancestry. It also occurs in children of Middle Eastern and Indian descent.
The most common symptoms of sickle cell disease include:
Early diagnosis of sickle cell disease is essential for providing proper treatment to prevent potentially devastating complications. Most cases of sickle cell disease are identified through newborn screening in the first days of life, which is required in most states. A hemoglobin electrophoresis blood test can measure different types of hemoglobin in the blood.
After all tests are completed, doctors will be able to outline the best treatment options.
A stem cell transplant is the only cure for SCD, but it carries risks. Other treatments, which are aimed at relieving symptoms or preventing complications, include:
Dr. Matthew Heeney, Director of the Blood Disorders Center and clinical leader of the Sickle Cell Program, shares his care philosophy for patients suffering from and coping with sickle cell disease.