Q&A World Sickle Cell Disease Day (web article)

June 19, 2009 marks the first annual World Sickle Cell Disease Day. Prompted by a United Nations resolution calling for the recognition of sickle cell anemia as a public health problem, World Sickle Cell Disease Day was established to promote awareness of this genetic disease that affects millions globally.  Natalie Wood-Wright, associate director of public affairs for the Johns Hopkins Bloomberg School of Public Health discussed the importance of sickle cell disease awareness with Carlton Haywood Jr., PhD, MA, associate faculty at the Johns Hopkins Berman Institute of Bioethics and assistant professor of medicine at the Johns Hopkins School of Medicine.  Haywood recently received his PhD in Bioethics and Health Policy from the Bloomberg School. He was diagnosed with sickle cell disease as a child and serves as an advocate for sickle cell education and policy change.

Natalie Wood-Wright:  Many people are affected by sickle cell disease, but it seems the general population knows very little about this potentially devastating disease. What is sickle cell and what causes this disease?

Carlton Haywood Jr.: Sickle cell disease refers to a collection of related inherited disorders of the hemoglobin, which is the substance within our red blood cells that carries oxygen to our body’s tissues.  It is estimated that 5 to 7 percent of the world’s population carries one copy of a gene that causes a major disorder of the hemoglobin—among which sickle cell disease is the most common.  A person needs to inherit one copy of the gene from each parent in order to be born with sickle cell disease.  The hemoglobin of persons with sickle cell disease does not perform its job properly. Under certain environmental conditions in the body, the hemoglobin changes shape, which causes the entire red blood cell to change shape.  These sickle-shaped red blood cells are no longer able to flow easily through our body’s blood vessels. The effects of this process on the overall health of the person with the disease are numerous.  Persons with the disease can experience intense acute pain, chronic pain, progressive organ damage and early mortality.  Unfortunately, in the United States the median life expectancy for persons born with the most severe and most common form of sickle cell disease is 42 years for men and 48 years for women.  So it’s the cause of an almost 30-year deficiency in life expectancy compared to persons without sickle cell disease, not to mention the tremendously reduced quality of life and tremendous amount of pain that persons with that condition face.

NW: Is sickle cell disease more prevalent in some groups than others?

CH: Globally, we know that persons of African descent have the greatest likelihood of having the gene for sickle cell disease, but it’s not limited to us.  Sickle cell disease is also quite prevalent in persons of Mediterranean origin, Saudi Arabia, India and other parts of Asia.  In the U.S., all populations are at risk for sickle cell disease, but again, African Americans are much more likely to have sickle cell disease than other populations.  Current U.S. estimates show nearly 1 of every 400 African American babies is born with sickle cell disease.  It is also estimated that 1 out of every 1,100 or so Hispanic babies are born with sickle cell disease. The overall prevalence for Native Americans and Caucasians are much lower, as around 36.2 out of every 100,000 Native Americans and 1.72 out of every 100,000 Caucasians are thought to have the disease.

NW: What is known and what is unknown about sickle cell disease at this point?

CH: Unfortunately there are many things that we don’t yet know about the disease.  From a public health perspective here in the U.S., there is still some very basic information that we are lacking.  For instance, we don’t have a sound estimate of the number of individuals in the U.S. who have sickle cell disease, as we are lacking any sort of large-scale surveillance system for the disease.   How many of us are out there?  Where are we?  How are we doing?  We know a little more about the sickest individuals with the disease as they are hospitalized quite frequently.  However, we don’t know how representative this subgroup of the population really is.  From a clinical perspective, we don’t yet know how to accurately predict an individual’s disease severity. There are no tests to say that this person with sickle cell disease is going to have a very severe course over their life, whereas this person’s sickle cell disease is going to take on a milder form, because we know that there’s great variability in how it affects individuals.  Some people are affected almost from birth—about 6 months of age on—in a very severe manner whereas other persons with sickle cell disease don’t have a lot of problems over their lifetime.  This lack of information hinders our efforts in figuring out an individual’s best course of treatment.

NW: What type of work is being done at the Bloomberg School to address the unknown and make advances in disease treatment?

CH: At the Bloomberg School and the Berman Institute we are working with health policymakers in the federal government and the state to help figure out the best ways to design population-based surveillance for persons with sickle cell disease so that it meets the public health goals of surveillance, but at the same time minimizes some of the ethical challenges and ethical burdens that could occur from these surveillance efforts. We are also assisting in creating innovative solutions to educate physicians and nurses on better ways to treat the pain that’s involved with sickle cell disease.  One of the major problems in sickle cell disease care is the treatment that we receive from clinicians when we seek care for our pain.  Because of a lack of an objective measure of pain, and because many clinicians don’t trust the patient’s report of their pain, clinicians tend not to provide powerful pain medications in doses that are adequate to provide effective pain relief.  Patients are left with the burden of trying to convince clinicians of the legitimacy of their pain reports. Additionally, patients often report feeling uninvolved in the medical care decision-making process.  So we are working to change provider attitudes.  We are currently developing a video that interviews sickle cell patients addressing what it’s like to present for treatment of their pain.  Many clinicians only see sickle cell patients when they come to the hospitals and when they’re acutely ill.  Our hope is that this video will show the human side of patients by allowing clinicians to see individuals in their homes, with their families, and having pointed discussions about what it’s like for them to not be believed when they seek care for their pain.  The video will also feature a physician providing various facts about sickle cell disease. The video is designed to improve the clinician’s knowledge about the disease and also improve the overall attitude clinicians have toward sickle cell patients.

NW: June 19 marks the first annual World Sickle Cell Day; how did this come about?

CH: Anything that we can do to raise awareness of the problem, the burden and hopefully convince public health professionals, clinicians and others to truly think more about sickle cell disease is critical. The World Health Organization in 2006, and then the United Nations in December of 2008, each came out with resolutions calling on the global community to pay more attention to the public health burden caused by sickle cell disease across the world.  In its December 2008 resolution, the General Assembly of the United Nations encouraged all of its member nations to pay more attention to the public health burden of sickle cell disease, and designated June 19th from here on as World Sickle Cell Day to give its member nations a day that they can use to raise awareness about the burdens of sickle cell disease and what can be done to improve research, education and clinical management for persons with the disease.  Today, June 19th, will be the very first celebration of World Sickle Cell Day based on this resolution.  In the U.S., celebrations will take place in Washington, D.C., and New York with the primary goal of elevating the priority level of sickle cell disease in public-health thinking.

NW: What is your hope for World Sickle Cell Day?

CH: I would like to encourage everyone to get involved, as awareness of sickle cell disease in this country is extremely low. I would like my colleagues in public health to become more aware of this disease, and I would challenge them to think about how the work that they do can help us advance research, public health policies and our public health goals for sickle cell disease in this country.  We could really use the help of members from all of the disciplines within public health in finding the answers to some of the basic questions that we still have about the disease in this country.  Only then can we begin to make better health policies for this population.