Sickle Cell Disease Still Tends to Be Overlooked

Sickle cell disease affects about 100,000 Americans, most of them African-Americans. There are few treatments for it, and experts say not enough is being done to prevent complications. Just recently, the Centers for Medicare and Medicaid Services declined to put in quality measures that might help monitor care improvements.

There is also a question about what role race and wealth play in how much attention and funding the disease receives.

The disease, also called sickle cell anemia, is caused by a gene mutation that leads to red blood cells that are misshapen. These malformed cells have more trouble traveling through blood vessels, and can break or clump in ways that can lead to significant pain, strokes, and tissue or organ damage. Sickle cell disease is not a mild illness. In sub-Saharan Africa, it is probably responsible for up to 6 percent of childhood deaths.

The cell malformations were identified more than a century ago. The inheritance patterns were published 70 ago. The first treatment, hydroxyurea, was approved only in 1998. It was the only treatment available for almost 20 years. A second drug, Endari, was approved two years ago.

Stem cell transplants can be curative, but they are very risky and can be performed only when a match is found. They also require lifelong therapy to prevent rejection. Recent news has also hinted at the promise of the gene-editing technology CRISPR to treat sickle cell disease, but only one patient in the United States has been treated so far, and it will be some time before results can show if it can be more widely used.

A 1994 study in the New England Journal of Medicine found that the median age of death for a woman born with sickle cell disease in the United States was 48 years; for a man it was 42. A more recent study in Public Health Reports found that in 2005, the median age of death was 42 for women and 38 for men.

Even without treatments, things can be done to prevent complications, especially in children. Many studies have shown that treating children preventively with daily antibiotics significantly reduces the chance of infections and sepsis. Other studies have shown that screening children each year with an ultrasound of the head can help prevent strokes. For decades, national guidelines have recommended both of these measures.

And yet too few children get them.

A study last year in Pediatrics examined how many children with the disease, helped by coverage from Medicaid in a number of states, received antibiotics for at least 300 days over the course of a year. Only 18 percent did. Children with more health care encounters were more likely to receive a prescription, but not as many as you might think.

Another study two years earlier in JAMA Pediatrics looked at how many similar children received a yearly transcranial Doppler screen. Although rates of screening increased over the six-year study period, they peaked at 44 percent, meaning that more than half of children were not screened.

We don’t know whether rates have improved since then because there’s no national registry for sickle cell disease.

One way to increase these numbers would be to use quality measures. The Medicaid program has a set of 25 measurements they recommend to states to assess the health care provided to patients. Although reporting on the measures is currently voluntary, many states and organizations have adopted them.

Last year, the pediatric Measure Applications Partnership, an expert panel set up by the Centers for Medicare and Medicaid Services (C.M.S.), voted by 19-1 to add two sickle cell measures — one for preventive antibiotics and one for transcranial Doppler screening — to the core set of pediatric measures. These measures were also endorsed by the National Quality Forum, an independent group that assesses quality measures for reliability and validity.

Dr. Gary L. Freed, a professor of pediatrics and health policy at the University of Michigan, and a voting member of the partnership in 2018, said: “Right now, no one is held accountable for the current standard of care that is provided to children with sickle cell disease. C.M.S. had the opportunity to send a clear message to states, and, by extension, to Medicaid health plans and to providers, that the quality of care for these children matters.”

Last fall, though, the Centers for Medicare and Medicaid Services decided not to add these measures to the core set. The main argument for that position: Some states have a low incidence of sickle cell disease, most likely because they have fewer African-American residents.

But reporting by states on the measures in the core set is voluntary, and each state could determine for itself if the sickle cell disease measures were appropriate for its population.

Moreover, although sickle cell disease is rare, other rare diseases achieve much more attention.

Cystic fibrosis is another inherited disease that reduces life expectancy. In the United States, it’s about one-third as common as sickle cell disease. As with sickle cell disease, there are no definitive therapies, but a number of recommended actions and screenings can improve life immensely. In 2013, a study published in Blood compared spending on the two diseases by the National Institutes of Health and national foundations.

In 2011, N.I.H. research funding per person affected by cystic fibrosis was more than 11 times that of per-person funding for sickle cell disease. Spending by national foundations for cystic fibrosis was 440 times higher. More than twice as many publications in the peer-reviewed literature focused on cystic fibrosis. No drugs were approved for sickle cell disease over the study period, while five were approved for cystic fibrosis.

“Cystic fibrosis gets a lot more attention, focus and support because it affects a demographic group with potential resources and other characteristics,” Dr. Freed said. “Sickle cell disease often affects the most vulnerable of populations. Around 90 percent are Medicaid-enrolled. Sadly, there is also likely a measure of unconscious and conscious bias toward this population.”

Because of the passage of a health act on sickle cell disease and other heritable blood disorders in 2018, some believe things are about to get better. Such predictions have occurred before, with the passage of the Sickle Cell Treatment Act in 2004, and things did not improve significantly. The 2018 law also authorized less than 50 percent of the funds that the 2004 law did.

It’s almost impossible to improve quality without being able to measure it. When it comes to sickle cell disease, we seem to be failing to do both.