Dr. Alisa Hideg: Advancements give sickle cell sufferers hope
When I was in medical school, I met a medical student with sickle cell disease, an inherited illness. She had worked with her health care providers to successfully manage the disease and was doing well. But the disease can at times cause acute pain and fatigue.
Sickle cell disease is inherited when you get one defective sickle cell gene from each of your biological parents. It is most common in people of African heritage. When you have sickle cell disease, the four proteins encoded by the sickle cell genes that make up the hemoglobin molecules inside your red blood cells may not be made correctly and so they may not join together in the usual specific shape that allows them to transport oxygen efficiently. Instead, hemoglobin sometimes forms stiff rods inside the red blood cells. Rod-shaped hemoglobin affects the overall shape of the red blood cells.
Instead of being a flexible, doughnut-type shape that can travel through large and small blood vessels, sickle shaped red blood cells lack flexibility and get stuck in blood vessels, blocking blood flow to tissues and organs, causing sudden pain and tissue damage. These red blood cells live only 10 to 20 days, compared to 90 to 120 for normal red blood cells. Because your body may not be able to make new blood cells fast enough to replace the cells that have died you can become anemic and may feel chronically tired.
Even though a person is born with sickle cell, babies do not usually start to show symptoms until 5 or 6 months of age. All babies born in the United States are screened for sickle cell at birth and the parents are notified immediately so that appropriate monitoring and medical care can begin.
Managing sickle cell disease well requires early diagnosis, and close monitoring of a child’s height, weight, blood pressure, oxygen saturation, blood, urine, eyes and cognitive development to catch and treat complications as early as possible. Symptoms from complications of sickle cell disease include swelling of the hands and feet, jaundice, chronic pain, fever, shortness of breath, cough, weakness of a limb, confusion, loss of balance, difficulty speaking, severe headache, blood in the urine, nausea and vomiting. Episodes of such severe symptoms happen most commonly when a person has an infection or is dehydrated or injured. Some complications happen with the transition to adolescence and young adulthood. Special treatments and management at this age can ease the transition.
Your spleen, which is responsible for removing damaged blood cells and providing immunity to many infections, often does not work properly in people with sickle cell disease. Completing routine vaccinations plus others to protect against the flu, pnemococcus and meningococcus is extremely important. If possible, avoid people who are sick with contagious infections.
Current treatments for sickle cell disease include medications and red blood cell transfusions. In children younger than 16 who have severe sickle cell disease complications like strokes and acute chest syndrome, a stem cell transplant may be recommended if someone with closely matching bone marrow (usually a relative) can be found.
In the 1970s, a person with sickle cell disease in the United States might not have survived adolescence. Now, with proper medical care, a person can live 40 to 60 years in the United States with sickle cell disease. The medical student with sickle cell disease I met in the early 1990s is still alive and she is doing research into new ways of treating this serious illness.