Nav: Home

Study: Rare patients with sickle cell disease live nearly twice national average

October 04, 2016

(WASHINGTON, Oct. 4, 2016) -- With a national median life expectancy of 42-47 years, people with sickle cell disease (SCD) face many challenges, including severe pain episodes, stroke, and organ damage. Compounding these complications is that SCD -- an inherited, lifelong blood disorder characterized by rigid and sickle-shaped red blood cells that stick to the blood vessels, blocking blood flow -- has only one FDA-approved treatment, no widely available cure, and some people may have limited access to appropriate care.

However, a new report published online today in Blood, the Journal of the American Society of Hematology (ASH), shows that some people with mildly symptomatic SCD may live long lives with proper management of the disease, including strong family support and strict adherence to medication and appointments. This analysis of four case studies details the outcomes of four women with milder forms of SCD who have far surpassed the U.S. median of 47 years old for women with the disease, instead living as long as 86 years.

Report author Samir K. Ballas, MD, Professor Emeritus in the Department of Medicine at Sidney Kimmel Medical College at Thomas Jefferson University in Philadelphia, hopes that this example can serve as a blueprint for others living with SCD. "For those with mild forms of SCD, these women show that lifestyle modifications may improve disease outcomes," said Dr. Ballas. Of the women described in this report, three were treated at the Sickle Cell Center of Thomas Jefferson University, and one in Brazil's Instituto de Hematologia Arthur de Siqueira Cavalcanti in Rio de Janeiro. Though they had dissimilar ancestries (two African American, one Italian American, and one African Brazilian), all led healthy lives bolstered by long-term family support, to which Dr. Ballas attributes their long lives and high quality of life.

"It is very likely that their healthy lifestyles were important contributors to their longevity. All of the women were non-smokers who consumed little to no alcohol and maintained a normal body mass index. This was coupled with a strong compliance to their treatment regimens and excellent family support at home," said Dr. Ballas.

For this report, treatment compliance was based on observations by health care providers, including study authors. Family support was defined as having a spouse or child who provided attentive, ongoing care.

Another common factor among these four women is that they had what Dr. Ballas called "desirable" disease states. "These women never had a stroke, never had recurrent acute chest syndrome, had a relatively high fetal hemoglobin count [which helps to prevent cells from sickling], and had infrequent painful crises. Patients like this usually -- but not always -- experience relatively mild SCD, and they live longer with better quality of life."

As they had relatively mild disease states, none of the women were qualified to receive treatment with hydroxyurea (HU), the only FDA-approved treatment for adults with SCD. Accordingly, these patients received standard treatment including hydration, vaccination (including annual flu shots), and blood transfusion and analgesics as needed. Patients were encouraged to attend regular follow-up visits, not to smoke, watch their weight, and maintain a support system as needed.

Dr. Ballas was quick to point out, however, that this does not mean these women lived crisis-free lives. Each experienced disease-related complications necessitating medical attention, like occasional acute chest syndrome, a problem that can cause fever, cough, excruciating pain, and shortness of breath.

It is worth noting, said Dr. Ballas, that the report does have limitations. For one, there were only four participants, all of whom were women. "Adult females with SCD generally live longer than males, but we do not know why. One possibility is that women tend to have relatively lower blood viscosity due to their lower hemoglobin level compared to males." That said, Dr. Ballas was quick to point out that this does not mean men cannot benefit from a healthy lifestyle.

To that end, Dr. Ballas hopes that patients who have defied expectations like these four women can serve as positive examples for SCD patients of all ages: "I would often come out to the waiting room and find these ladies talking with other SCD patients, and I could tell that they gave others hope, that just because they have SCD does not mean that they are doomed to die by their 40s -- that if they take care of themselves, and live closely with those who can help keep them well, that there is hope for them to lead long, full lives."
-end-
Blood, the most cited peer-reviewed publication in the field of hematology, is available weekly in print and online. Blood is the official journal of the American Society of Hematology (ASH) , the world's largest professional society concerned with the causes and treatment of blood disorders.

ASH's mission is to further the understanding, diagnosis, treatment, and prevention of disorders affecting blood, bone marrow, and the immunologic, hemostatic, and vascular systems by promoting research, clinical care, education, training, and advocacy in hematology.

blood® is a registered trademark of the American Society of Hematology.


American Society of Hematology

Related Sickle Cell Disease Articles:

First systemic evidence for safety of tPA in stroke patients with sickle cell disease
Adult patients with sickle cell disease who experience a stroke caused by a clot (i.e., ischemic strokes) can be treated safely with tissue plasminogen activator if they qualify, report investigators at the Medical University of South Carolina and elsewhere in the March 2017 issue of Stroke.
Scientists aim to create the world's largest sickle cell disease stem cell library
Scientists at the Center for Regenerative Medicine at Boston Medical Center and Boston University School of Medicine are creating an induced pluripotent stem cell (iPSC)-based research library that opens the door to invaluable sickle cell disease research and novel therapy development.
Stanford researchers take step toward gene therapy for sickle cell disease
Using the CRISPR gene-editing technique in stem cells, Stanford researchers repaired the gene that causes sickle cell disease, and the mended stem cells were successfully transplanted into mice.
Study: Rare patients with sickle cell disease live nearly twice national average
A new report published online today in Blood, the Journal of the American Society of Hematology, shows that some people with mildly symptomatic SCD may live long lives with proper management of the disease, including strong family support and strict adherence to medication and appointments.
Discovery could help treatments for sickle cell disease
Researchers have found new biophysical markers that could help improve the understanding of treatments for sickle cell disease, a step toward developing better methods for treating the inherited blood disorder that affects an estimated 80,000 to 100,000 Americans each year.
Hydroxyurea improves lung function in children with sickle cell disease
For the first time, researchers were able to demonstrate that children diagnosed with sickle cell disease showed improvement in lung function after treatment with hydroxyurea, a treatment that is underused despite its demonstrated benefits.
Prevention of sickle cell disease progression in adult mice
A new study in JCI Insight reports the results of a longitudinal study of SCD model mice that links impaired activity of the antioxidant regulator Nrf2 to intravascular red blood cell destruction and other adverse SCD-associated effects.
Multiple myeloma drug could revolutionize treatment for sickle cell disease
An established drug for recurrent multiple myeloma might effectively be repurposed to improve the survival and day-to-day lives of patients with devastating sickle cell disease, according to revealing new research by a Feinstein Institute for Medical Research scientist.
New technology may standardize sickle cell disease screening for infants
Researchers from Seidman Cancer Center at University Hospitals Case Medical Center and Case Western Reserve University School of Medicine presented new research findings this weekend at the Annual Meeting of the American Society of Hematology.
Treatment for sickle cell disease may help protect patients' kidney function
After six months of treatment with hydroxyurea, sickle cell disease patients' kidney function, as measured by the urinary albumin/creatine ratio, improved significantly.

Related Sickle Cell Disease Reading:

Best Science Podcasts 2019

We have hand picked the best science podcasts for 2019. Sit back and enjoy new science podcasts updated daily from your favorite science news services and scientists.
Now Playing: TED Radio Hour

Digital Manipulation
Technology has reshaped our lives in amazing ways. But at what cost? This hour, TED speakers reveal how what we see, read, believe — even how we vote — can be manipulated by the technology we use. Guests include journalist Carole Cadwalladr, consumer advocate Finn Myrstad, writer and marketing professor Scott Galloway, behavioral designer Nir Eyal, and computer graphics researcher Doug Roble.
Now Playing: Science for the People

#530 Why Aren't We Dead Yet?
We only notice our immune systems when they aren't working properly, or when they're under attack. How does our immune system understand what bits of us are us, and what bits are invading germs and viruses? How different are human immune systems from the immune systems of other creatures? And is the immune system so often the target of sketchy medical advice? Those questions and more, this week in our conversation with author Idan Ben-Barak about his book "Why Aren't We Dead Yet?: The Survivor’s Guide to the Immune System".