Recent research has provided comfort and hope to the scores of people with sickle cell in the U.S. Virgin Islands and the hundreds of thousands worldwide who deal with the condition.
Wednesday is Sickle Cell Awareness Day, but anyone touched by the disease does not need a reminder. They are familiar with the acute pain that comes in periodic “crises” that last for days, and with the long, long list of complications the disease can create, some of them life-threatening.
A genetic blood disorder, the condition alters red blood cells from their normal disc-shape, to one resembling a crescent or the curved blade of the old-fashioned farm implement from which Sickle Cell takes its name. These sickle-shaped cells are also stiff and sticky, and they block blood flow, creating myriad problems.
While it is commonly thought of as a condition that only affects black people, Sickle Cell is really more about place than race. It runs in families whose ancestors lived in tropical, sub tropical or sub-Saharan regions, where malaria is or was endemic.
Whether the gene mutation that causes Sickle Cell was a natural response to malaria or just a random change, it survived through generations because of the interaction between the altered red cells and malaria.
“It was shown that the sickle cells offer a protection against malaria,” said Dr. Joseph Kaplan of Virgin Islands Oncology and Hematology PC. “So it was natural selection.”
People with a mutated gene, called the sickle hemoglobin gene, tended to survive malaria outbreaks and live to procreate. Those without the gene were more likely to fall victim to malaria. So even though people without the mutated gene were and remain very much in the majority, many with “normal” genes did not establish lines of descendants.
Somone who inherits just one hemoglobin gene from one parent will have Sickle Cell trait. A person with the trait will usually have few symptoms, according to information posted on its website by the National Institute for Health. However, he or she can pass the gene on to their offspring.
A person who inherits the gene from both parents, that is, two hemoglobin genes, will have Sickle Cell Disease.
SCD affects between 90,000 and 100,000 Americans, according to the Centers for Disease Control and Prevention. An estimated one in every 12 African Americans has the trait, that is, carries the gene. One in 500 African Americans has the full blown disease.
With 77 percent of its population able to trace their roots to Africa, the Virgin Islands may be expected to have a high incidence of sickle cell.
Actual statistics were not available from the V.I. Health Department. A request to the CDC for local numbers also was fruitless. Shelley S. Hammond, media specialist with the center, said, “CDC does not have any sickle cell prevalence data on the Virgin Islands.”
But Kaplan, who is in private practice, said “It is very common here.”
Some patients are monitored by their primary care doctor. Others go to one of the few hematology/oncology centers in the territory. Kaplan said at the St. Thomas center where he works, “We probably see about 15 to 20” sickle cell patients on an ongoing basis.
Complications from SCD include leg ulcers and other skin problems, hearing and vision problems, stroke, high blood pressure, high risk of infections, and priapism in men. In children, there can be a normal growth failure or developmental delays and delayed puberty. The most common form of SCD is Sickle Cell Anemia. Anemia is a lack of healthy red blood cells, which carry oxygen; severe fatigue results from a lack of oxygen in the blood.
Typically the disease manifests itself very early, between four and six months of age, Kaplan said. That’s because the fetal hemoglobin disappears and is replaced by what the body is making with the sickle cells. Early signs in an infant are swollen hands or feet.
Neo-natal screening which is now standard practice throughout the United States, including the USVI, identifies infants born with sickle cell.
So “most people know” early in life whether they are affected, Kaplan said.
Besides the secondary complications SCD causes, patients are subject to periodic, debilitating and highly painful episodes known as crises, which can force them into bed rest or into the hospital for a few days. There they receive fluids for dehydration and other treatment. The trigger for an episode can be virtually any sort of compromising stress, Kaplan said – say, a urinary tract infection, dehydration, alcohol consumption, emotional stress, even a sudden change in the weather.
The frequency and severity of these episodes varies greatly, but it has not been unusual for someone with SCD to be hospitalized four or five times a year.
On the other hand, with close monitoring and with advances in treatment, Kaplan said, “Some patients can be managed and never need to be hospitalized … Sometimes we can avoid the crisis.”
So what is the treatment?
Sometimes blood transfusions are indicated. And there has been some success with bone marrow transplants, particularly in children. The process involves killing the patient’s bone marrow and then replacing it with marrow from a donor, usually a family member.
Such a procedure is “exorbitantly expensive” Kaplan said, and not practical in all cases. Transfusions and transplants are “supportive measures” rather than medicine.
“If we open the medicine chest for sickle cell, there’s one drug” and only one drug, Kaplan said. “That’s hydroxyurea.”
A chemo-type oral medication, hydroxyurea “increases fetal hemoglobin,” he said. “That’s the mainstay of treatment.” It can be taken at any age, but is used mostly with adults. He described it as “relatively safe” with perhaps the most common side effect being a decrease in sperm count for men.
Clearly SCD is serious. But the trend today is to work with patients to manage the disease and focus on living a normal life.
“We’re trying to change the mindset,” Kaplan said. Good care is readily available.
