Nearly one in every 365 African-Americans are born with sickle cell disease, according to a new report, which found that one in 13 African-American newborns carry the trait which increases the chances of having the disease.
In the “State of Sickle Cell Disease 2016,” released on Tuesday by the American Society of Hematology, sickle cell disease (SCD) disproportionately affects African-Americans.
Also of note, while malaria might not be prevalent in the minds of most, its genetic traits that were developed thousands of years ago to resist the causes of that disease still remain today.
What’s important about that finding is that a small genetic change in hemoglobin — the protein in red blood cells that carries oxygen to the tissues — both causes sickle cell anemia and protects against malaria, a mosquito-borne disease caused by a parasite, researchers said.
The new report, released during a conference held at the Newseum in northwest D.C. to help kick-start Sickle Cell Disease Awareness Month, revealed that despite knowing the exact cause of SCD, there remains no cure for the disease and existing treatments are often inadequate.
“Not only are individuals with SCD burdened by the pain and disability that comes with a chronic condition, but they also have very few accessible treatment options due to our fragmented heath care system,” said Dr. Charles S. Abrams of the University of Pennsylvania and president of the American Society of Hematology (ASH). “This status quo is unacceptable, and we are setting out to change it. ASH is proud to make a difference for people battling this disease worldwide by teaming up with partners from around the globe to launch the Sickle Cell Disease Coalition.”
SCD is an inherited, lifelong chronic disorder affecting nearly 100,000 Americans and a growing global health problem that will touch nearly 30 percent more people globally in the next three decades, according to the report.
Although new approaches to managing SCD have led to improvements in diagnosis and supportive care, those living with the disease still have severe complications to overcome, study authors said.
Many are unable to access quality care and are limited by a lack of effective treatment options.
In an effort to identify unmet medical needs for people with the disease, the ASH, along with other groups, issued the report which also evaluates the disease in four priority areas — access to care, training and professional education, research and clinical trials, and global health.
Significant improvements are needed across all areas, and though patients are living longer, the system of care needs to change to ensure a better quality of life, according to the report.
To address those challenges, ASH launched the Sickle Cell Disease Coalition along with more than 20 other organizations which have jointly issued a call to action in an effort to amplify the voice of the SCD community, promote awareness and transform care both nationally and globally.
The coalition will provide a platform to encourage stakeholders to develop and implement vital projects and activities that will ultimately help the SCD community and improve outcomes for those with the disease, officials said.
“There are many unique challenges that people with SCD face,” said ASH Vice President Dr. Alexis Thompson of the Ann and Robert H. Lurie Children’s Hospital of Chicago. “For example, the transition from pediatric to adult care can be especially difficult, and many people struggle to find health care providers with comprehensive knowledge and expertise to provide proper care, especially in rural communities.”
The disease affects approximately 100,000 individuals in the United States and approximately 300,000 people have the sickle cell trait, the report found. Further, 75 percent of adults with sickle cell and those with frequent pain crises fail to get hydroxyurea, the only current treatment approved by the FDA to treat SCD in adults.
Alarmingly, only one in three children with SCD receive appropriate monitoring for stroke by age 2, and children not treated with hydroxyurea accrue over $500,000 more in health care costs than those who receive the treatment.
An accompanying scorecard released with the report showed that 73 percent of family physicians believe more education and support tools would help avoid complications in managing the disease.
Approximately 69 percent of family doctors reported that clinical decision support tools would be useful for treating the illness, but only 20 percent said they felt comfortable treating patients with SCD.
While stem cell transplantation has shown success in curing some with SCD, it is not widely available, doctors said.
The report noted that more than 90 percent of children with SCD in resource-poor countries do not survive to adulthood. Overall, about 90 percent of those with the illness do live well into adulthood but still face various issues and challenges.
In the United States, access to appropriate care remains limited by a number of factors, including health insurance, availability of knowledgeable health care providers, provider experience, geography, economic status and co-existing conditions, ASH officials said.
The transition from pediatric to adult care can be especially challenging, and the focus needs to shift from acute care of complications to a chronic care model, the report’s authors said.
Nevertheless, officials remain optimistic.
“Given recent advances in research and treatment, there is enormous opportunity to transform the way we care for people suffering from SCD and to conquer this disease,” Thompson said.