This genetic disorder causes normally round red blood cells to look like crescents, or sickles.
After a lifelong struggle with sickle cell anemia, singe and actress Jordin Sparks's stepsister Bryanna Jackson-Frias died Tuesday evening of complications from the disease, People reported. Sparks first revealed her 16-year-old stepsister was dealing with an episode of sickle cell pain on Tuesday. Her mother, Jodi Jackson, posted a picture of Bryanna on Facebook on Wednesday along with the message, "Bry went peacefully to Heaven. I can't help to think [that] she's smiling just like this. Thank you all for your prayers."
Sickle cell anemia is a genetic disease, says Damiano Rondelli, MD, the Michael Reese Professor of Hematology at the University of Illinois College of Medicine at Chicago. Approximately 70,000 to 100,000 Americans have been diagnosed with it, according to the American Society of Hematology, most of them African-American. Last year, the rapper known as Prodigy, part of the duo Mobb Deep, died after being hospitalized for complications of the disease. Here's some insight into the condition everyone should know.
What is sickle cell?
Here’s what’s going on. Hemoglobin, a protein inside red blood cells, carries oxygen throughout your body and into organs and tissues. Normally, red blood cells are oval and flexible so they can course through blood vessels effectively. People with sickle cells have red blood cells that are oblong—they look like a sickle, or a "C" shape. This abnormal and rigid shape causes them to accumulate in blood vessels, blocking blood flow and preventing oxygen from getting to tissues, explains Dr. Rondelli.
Over time, without adequate oxygen, organs become damaged. A blockage of blood flow to the brain can cause a stroke; other complications include heart disease and lung and kidney disease. People with the disease have shortened life expectancies, typically between 40 to 60 years. “This is a very complex disease that can affect any organ,” says Dr. Rondelli.
Severe forms of sickle cell can leave sufferers with relentless pain caused by blockages in small blood vessels. Patients will describe it as the worst pain ever, says Dr. Rondelli, and they often have to be hospitalized and given opioids to control the discomfort. “This is extremely limiting in life and impacts their ability to work and go to school,” he says.
Who is at risk?
Since it's a genetic disorder, it's only transmitted through families—you can't catch it like a cold. Sickle cell anemia is more common in African-Americans; one in 12 carries a sickle cell gene, and one in 500 has the disease, says Dr. Rondelli. If both parents are carriers, there is a 25% chance that their child will be born with sickle cell.
Symptoms of the disease—which include dark urine, pain, and yellow eyes—can appear in infants, and because early diagnosis is crucial, all newborns in the U.S. are tested for sickle cell, according to the American Society of Hematology.
How is it treated?
Unfortunately not always very effectively. Pain relievers and blood transfusions can help, but a bone marrow transplant is the major treatment for sickle cell and it can cure the disease. For that to be done successfully, a bone marrow donor match has to be found, and then chemotherapy given, before a person with the disease is ready to have donor bone marrow cells transplanted.
In children, this procedure works well. But in adults, “these patients are so sick that the chemotherapy can increase their risk of dying,” explains Dr. Rondelli.
At UIC, Dr. Rondelli has begun to use immunosuppressive therapy in lieu of chemo to increase the odds of survival. Another hurdle is often finding a bone marrow match, even among family members. However, he and his colleagues have started using a breakthrough procedure that relies on “half-matched” donors, meaning anyone in the family (a cousin, half-sibling, parent, child) can donate bone marrow.
“Though this is still in the early stages, we’ve done 10 cases here with very good results. The future of sickle cell is getting a transplant before the disease becomes debilitating,” says Dr. Rondelli.