Sickle cell disease (SCD) is a serious blood disease that produces pain, anemia, infections, and blood vessel blockages that can cause damage and death to organs downstream. Sickle cell disease occurs most often in African Americans and Hispanics in the United States.
Sickle cell disease affects millions of people worldwide. People with African, Spanish, Mediterranean, and Indian ancestry are at increased risk. Approximately 120,000 infants are born with sickle cell disease every year.
In the United States, approximately one in 500 African Americans and one in 1,200 Hispanic Americans are born with sickle cell disease. Approximately two million Americans — including about eight-12 percent of the African American population — are carriers for the disease. Carriers of the disease are said to have the “sickle cell trait.”
What causes —–sickle cell disease?
Red blood cells carry oxygen throughout the body so that it can function at its best. Normally, red blood cells flow smoothly through blood vessels. In sickle cell disease, the red blood cells are shaped oddly, and they get stuck on the vessels, blocking blood flow.
Without oxygen, the tissues downstream from the blockage, such as organs, bones and muscles, can get damaged. The condition can also be very painful.
This is an inherited condition where the proteins that carry oxygen and help to give the red blood cells a normal shape are changed, and the red blood cells form an odd “sickle” shape (a sickle is a curved farming tool used to cut crops like grass and wheat). This shape affects the ability of red blood cells to flow smoothly, and they clump and produce vascular blockages that cause pain, infection, stroke, organ damage and death.
“Sickle” red blood cells are curved like the farm tool of the same name.
Because sickle cell disease is inherited (given from parent to child), an affected person has to get one defective sickle cell gene from each of their parents. If a person only has one sickle cell gene, they are said to be a “carrier” and do not have the disease or effects of the disease, except in very rare, extreme cases. As a carrier, you can pass the gene on to your children.
When both parents possess the sickle cell trait, each pregnancy has the following odds: a 25 percent chance of producing a child with sickle cell disease; a 25 percent chance of producing a child with neither sickle cell trait nor sickle cell disease; and a 50 percent chance of producing a child with sickle cell trait.
When one parent has SCD and the other has the sickle cell trait, each pregnancy has a 50 percent chance of producing a child who has either the sickle cell trait or sickle cell disease.
How is —–sickle cell disease diagnosed?
A simple blood test can show whether a person has sickle cell disease. Most states test for sickle cell disease before infants go home from the hospital. Doctors cannot predict which symptoms a child born with sickle cell disease will have, when they will start, or how serious they will be. There are three sub-types of sickle cell disease with similar clinical pictures.
Can —–sickle cell disease be prevented?
One can avoid or minimize the effects of the disease by avoiding situations that can exacerbate the disease such as: high altitude, increased atmospheric pressure, low oxygen situations, cigarette smoke exposure, severe dehydration and extreme exercise.
How is —–sickle cell disease treated?
Patients with sickle cell disease will have a lifelong struggle fighting many associated health problems such as pain, skin ulcers, infections, anemia, organ problems and stroke. Nevertheless, many patients can have an excellent quality of life by learning to appropriately care for themselves and effectively managing the disease. The best treatment is to prevent the attacks associated by the disease, is outlined above.
Early treatment includes daily antibiotics from ages two months to five years to prevent infections. Immunizations are also very important.
Many doctors will develop a pain management plan for their patients with the disease. Sometimes, periodic blood transfusions are helpful to reduce the risk of stroke and treat the symptoms of anemia (feeling weak and tired). A bone marrow transplant may also be an effective treatment in certain patients.
The most important thing a person with sickle cell disease can do is make sure they are receiving regular medical examinations with a physician who is an expert in treating the disease.
Action steps for anyone with —–sickle cell disease
Learn what sets off painful events such as dehydration, extreme exercise, cold exposure, long plane flights, high altitudes and cigarettes.
Take antibiotics as instructed.
Maintain a complete immunization schedule.
If you have a child with sickle cell disease, make sure caregivers and teachers know of their special requirements, including frequent drinks and bathroom trips and avoiding overexertion and cold temperatures.
Locate a good support group near you or via the Internet to reduce the familial stress the disease may cause.
Develop a good working relationship with a physician who is comfortable and good at managing the condition. Develop a pain management plan with your doctor.
Charles E. Crutchfield III, MD is a board certified dermatologist and Clinical Professor of Dermatology at the University of Minnesota Medical School. He also has a private practice in Eagan, MN. He has been selected as one of the top 10 dermatologists in the U.S. by Black Enterprise magazine and one of the top 21 African American physicians in the U.S. by the Atlanta Post. Dr. Crutchfield is an active member of the Minnesota Association of Black Physicians, MABP.org.