Treatment outcomes for people with sickle cell disease (SCD) have improved significantly in the past few decades. Today, over 90 percent of children who are born in Western countries with the genetic condition will live to adulthood.
This is a remarkable achievement, as SCD was once synonymous with childhood mortality for Western countries. Underdeveloped regions have additional problems, where SCD childhood mortality remains high. But longer lifespans have brought new challenges, such as a complex transition to adult care and inconsistent care across healthcare providers.
SCD primarily occurs in regions of the world most affected by malaria, such as the Middle East and some African and South Asian countries. Between 10 and 40 percent of the people in these regions carry the sickle cell gene, which leads to a prevalence of the disease in at least 2 percent of the population.
“The issues surrounding the treatment of patients with sickle cell disease fall into several categories,” Alexis A. Thompson, MD, MPH, head of hematology at the Ann and Robert H. Lurie Children’s Hospital of Chicago and president of the American Society of Hematology (ASH), said in a press release. “First and foremost is the immense suffering and inadequacies of care for people who have sickle cell disease.”
These observations were included in the State of Sickle Cell Disease: 2016 Report, an issue written in collaboration between ASH and other groups, outlining disparities in access to medical care, potential opportunities for research into new treatments, and strategies for training a new generation of physicians.
According to the report, despite universal newborn screening in the U.S., about 31 percent of infants did not receive long-term follow-up after diagnosis. As a result, improvements in life expectancy have not been uniformly met with advances in SCD treatment approaches.
“If we are talking about the United States, one of the major milestones of treatment is newborn screening combined with penicillin prophylaxis,” Thompson said. “Newborn screening, penicillin prophylaxis, immunization and other interventions have saved lives, and we can now say that 95% of U.S. children will live into adulthood. That has created some phenomenal opportunities, and we want to see those children reach their full potential.”
The report continues by stating that over 75 percent of adults with SCD who suffer from frequent pain crises do not receive hydroxyurea, the only SCD drug approved by the U.S. FDA. When inadequately treated, SCD may cause recurrent debilitating pain and increased risk of stroke, among other problems.
“We need to understand more about why hydroxyurea is underutilized,” Thompson said. “If we understand the barriers, we can try to overcome them, because we know the benefits that hydroxyurea can impart on patients with sickle cell disease.”
Another challenge is the cost of sickle cell treatments. There are elevated medical costs associated with the disease at around $1 million for patients who reach 45 years, with annual costs of $10,000 for children and $30,000 for adults. These costs may cause some patients to discontinue treatment.
Another highlight of the report is the assessment of how mortality rates among children with SCD decreased 3 percent annually between 1979 and 2005, but increased 1 percent annually for adult patients during that same time.
“There is a dramatic increase in the healthcare needs of people with sickle cell disease as they move into their 20s and 30s,” Thompson said. “Those who are living into adulthood are surviving longer, but their quality of life could be vastly improved.”
To tackle these issues, ASH recommends that all healthcare providers implement standard-of-care (SoC) guidelines and develop new resources to help physicians. Coordinated models also help ensure consistency of care around the country. In addition, adequate physician training and education are important to transition patients from childhood to adult care and increase the use of hydroxyurea in appropriate situations.
ASH partnered with patient advocacy groups, researchers, industry stakeholders and policymakers to announce the launch of the Sickle Cell Disease Coalition, aimed at improving the quality of SCD care worldwide.
“We recognize there are extraordinary opportunities that seem to be coming together right now, and it is going to be absolutely critical that we unify these opportunities to take maximum advantage and facilitate improvements in treatment for people with this disease,” Thompson added.