We have all heard of Sickle Cell Disease, but what do you actually know about it and its treatment? Here are 7 things everyone should know about SCD.
Sickle Cell Disease (SCD) is the most common of all inherited blood disorders in the United States. It is however still a Rare Disease affecting only 70-80 thousand Americans. It is especially prevalent among African Americans (1 in 500) and Hispanic Americans (1 in 1000-1400) according to the National Institutes of Health. Sickle Cell Disease treatment is very limited.
People tend to have vague ideas about rare diseases like Sickle Cell Disease. So here are seven things you should know.
Sickle Cell Disease is actually a group of inherited red blood cell disorders. It is carried in the hemoglobin (the iron carrier) in the blood and causes normally roundish red blood cells to develop in crescent shapes.
The “sickle shaped” cells are easily snagged in the smaller blood vessels in tissues and organs. This causes a blockage in the blood flow. This leads to a condition called ischemia, which is an inadequate amount of blood flow to a part of the body. When that happens in the heart it is called myocardial ischemia, which can be fatal.
The pain associated with vaso-occlusive crisis (VOC) is the most common complaint by patients. These episodes of pain are intermittent and unpredictable and often drive SCD patients to the Emergency Room. In VOC, blood flow is seriously interrupted to tissues leading to pain, and issues like acute chest syndrome, stroke or priapism. VOC can also lead to chronic organ damage.
The spleen is especially vulnerable to vaso-occlusive crisis. VOC can cause a condition called “asplenism” which is a reduced function of the spleen. When the spleen is not functioning normally, patients become more prone to certain types of bacterial infections.
According to research, there is a lack of training among family physicians on how to treat or manage Sickle Cell Disease. Also, since SCD is more noticeable in children, there is an increased danger when a patient ‘graduates’ from pediatric care to adult care because SCD becomes less noticeable. There is also a shortage of specialized clinics and as of a 2015 paper from the American Society of Hematology, “outdated evidence-based guidelines…for adults with SCD”. Adults with Sickle Cell Disease have poor support from health professionals and their disease is poorly managed as a result.
The pain associated with Sickle Cell Disease is often treated with opioids. Jon Mark Hirshon, MD, MPH, PhD, of the University of Maryland School of Medicine in Baltimore said in an article in Medpage Today, “And that’s one of the challenges. With the opioid crisis we want to make sure we are astute clinicians and don’t overdo things. At the same time, we also don’t want to undertreat. These are folks that you want to make sure are getting adequate pain management.” Research has shown that as patients with SCD age, the syndromes of nerve and centralized pain increase in frequency and that pain management needs to be catered to the specific patient experience rather than non-SCD conditions or guidelines.
Sickle Cell Disease treatments are few. But there is good news and bad news.
Because vaso-occlusion crisis (VOC) is the chief source of medical problems for Sickle Cell Disease patients, the FDA in July of 2019 granted priority review for a new drug, crizanlizumab that prevents VOC.
Additionally, The European Medicines Agency (EMA) included a new drug, voxelotor which reduces cell damage in SCD, in its Priority Medicines (PRIME) program, and the European Commission (EC) has designated voxelotor as an orphan medicinal product for the treatment of patients with SCD.
The Institute for Clinical and Economic Review is going to be reviewing new Sickle Cell treatments on March 26, 2020 in New England. If you are interested in learning more about the ICER review process and how patients can get involved sign-up here.
There is reason to be hopeful, because as of May 2018 SCD had only two drugs, hydroxyurea (an anti-cancer agent that reduces the frequency of vaso-occlusion crisis) and L-glutamine (prevents damage to red blood cells) FDA approved as treatments for this disease.
As September (Sickle Cell Disease treatment awareness month) comes to a close, let’s keep the conversation going.
Samuel N Uwaezuoke, et al. “Vaso-occlusive crisis in sickle cell disease: current paradigm on pain management”. J Pain Res. 2018; 11: 3141–3150.
Deepa Manwani and Paul S Frenette. “Vaso-occlusion in sickle cell disease: pathophysiology and novel targeted therapies”. Blood. 2013 Dec 5; 122(24): 3892–3898.
Onameyore Utuama, et al. “Sickle Cell Disease: Challenges and Comfort in Providing Care By Family Physicians”. Blood 2015 126:5570;
Giovanni Russo et al. “Current Challenges in the management of patients with sickle cell disease – a report of the Italian experience”. Orphanet Journal of Rare Diseases volume 14, Article number: 120 (2019)
Jim Sliney Jr. is a Registered Medical Assistant and a Columbia University trained Writer/Editor. He creates education and advocacy materials for patient support groups. Jim has worked closely with several rare disease communities. He also coordinates the patient content for PatientsRising and collaborates with other writers to hone their craft. Jim is a native New Yorker where he lives with his wife and all their cats. Twitter Email