Sickle Cell Disease
There are approximately 100,000 people living with sickle cell disease (SCD) in the United States and millions more globally. Current estimates indicate that about 300,000 people are born with SCD each year worldwide.
Since its discovery in 1910, SCD has received relatively little attention and few resources from the scientific, clinical, and public health communities compared with other genetic disorders, such as cystic fibrosis. Until December 2018 there was only one drug approved by the U.S. Food and Drug Administration (FDA) for the condition. A contributing factor to this lack of awareness and resources is that the affected population, which is primarily composed of racial and ethnic minorities, contends with persistent discrimination in the health care system and racism in society at large. Funding for SCD has also historically been low, especially compared to federal and private funding for other conditions, and has decreased over the years.
Sickle cell disease is a lifelong illness. A blood and bone marrow transplant is currently the only cure for sickle cell disease.
What causes sickle cell disease (SCD)?
SCD is caused by a defective gene, called a sickle cell gene. People with the disease are born with two sickle cell genes, one from each parent. If you are born with one sickle cell gene, it’s called sickle cell trait. People with sickle cell trait are generally healthy, but they can pass the defective gene on to their children.
Who is at risk for sickle cell disease (SCD)?
In the United States, most people with SCD are African Americans:
- About 1 in 13 African American babies is born with sickle cell trait
- About 1 in every 365 black children is born with sickle cell disease
SCD also affects some people who come from Hispanic, southern European, Middle Eastern, or Asian Indian backgrounds.
What are the symptoms of sickle cell disease (SCD)?
People with SCD start to have signs of the disease during the first year of life, usually around 5 months of age. Early symptoms of SCD may include:
- Painful swelling of the hands and feet
- Fatigue or fussiness from anemia
- A yellowish color of the skin (jaundice) or the whites of the eyes (icterus)
Effects from SCD vary from person to person and can change over time. Most of the signs and symptoms of SCD are related to complications of the disease. They may include severe pain, anemia, organ damage, and infections.
How is sickle cell disease (SCD) diagnosed?
A blood test can show if you have SCD or sickle cell trait. All states now test newborns as part of their screening programs, so treatment can begin early.
People who are thinking about having children can have the test to find out how likely it is that their children will have SCD.
Doctors can also diagnose SCD before a baby is born. The test uses a sample of amniotic fluid (the liquid in the sac surrounding the baby) or tissue taken from the placenta (the organ that brings oxygen and nutrients to the baby).
So what are the treatments for sickle cell disease (SCD)?
The only cure for SCD is bone marrow or stem cell transplantation. Because these transplants are risky and can have serious side effects, they are usually only used in children with severe SCD. For the transplant to work, the bone marrow must be a close match. Usually, the best donor is a brother or sister.
The treatments that can help relieve symptoms, lessen complications, and prolong life:
Researchers have developed a gene therapy that may be able to treat patients with sickle cell using gene editing technology. The new treatment stops the cells from expressing the mutated gene and induces the body’s cells into making fetal hemoglobin. The early signs of this are promising: one patient showed no signs of sickle shaped blood cells. The researchers are hoping to test it in people between 3 and 40 years old in the clinical trial.
NIH: National Heart, Lung, and Blood Institute
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