for fighting life-altering disease.
sickle cell disease
SCD is much more than pain.
Sickle cell disease (SCD) is a serious genetic disease. The condition is present throughout a person’s entire life and gets progressively worse over time. While most people associate SCD with frequent episodes of excruciating pain, people living with this disease also face an increased risk of stroke, severe infections, progressive organ damage and sadly, even death at a young age.
In SCD, pain onset can be sudden and unpredictable, often requiring hospitalization. It can be triggered by stress, illness, dehydration, temperature changes, wind speed, altitude, and barometric pressure, but often there is no detected factor. The symptoms of SCD often begin in childhood, with many children suffering from significant events, such as stroke and acute chest syndrome, in addition to pain crises. As many as 70% of children with SCD who experience a first stroke will experience stroke recurrence, necessitating chronic monthly red blood cell transfusions to prevent future occurrences. Even children who are pain free between crises can experience disease progression.
The cumulative effect of progressive organ damage becomes apparent in adulthood, and approximately 50% to 60% of adults (median age of approximately 30) with SCD have end-organ disease due to chronic complications, with 24% experiencing damage in multiple organs.
Over time, SCD can lead to infections, delayed growth and unpredictable episodes of vaso-occlusive events (VOEs) such as acute pain, priapism, acute chest syndrome (a condition characterized by chest pain, cough, fever, low oxygen level and breathing problems), stroke and organ failure that can lead to sudden death. Tragically, one in four people living with sickle cell disease experience a stroke by age 45.
Meet Lesly, living with sickle cell disease
As a busy mom and freelance makeup artist and hair stylist, Lesly has a lot on her plate. Managing her sickle cell disease - and all the challenges it brings - doesn't make her day-to-day any easier. Yet Lesly is determined to be there for her kids and her clients, while also speaking out against the stigma of SCD in the Hispanic community.
People living with SCD have a genetic mutation which impacts their red blood cells.
Typically, red blood cells (RBCs) are flexible and round allowing them to move easily through blood vessels. SCD is caused by a single mutation in the β-globin (HBB) gene which results in the production of abnormal sickle hemoglobin (HbS). HbS causes RBCs to become fragile, rigid, and crescent—or sickle—shaped, which makes movement through blood vessels difficult, painful, and damaging to the body.
This can result in severe anemia, blockage of blood vessels and progressive damage to the blood vessel walls (called vasculopathy).
A doctor can diagnose SCD based on the results from various screening tests, including a blood test for the presence of abnormal sickle hemoglobin. Worldwide, there are approximately 300,000–400,000 new births of individuals with SCD annually.
In the United States, it is estimated that SCD:
- Affects approximately 100,000 Americans.
- Occurs among about 1 out of every 365 Black or African American births.
- Occurs among about 1 out of every 16,300 Hispanic births.
Patients with SCD can feel invisible.
Many people living with SCD often feel unseen, misunderstood and mistreated because many of their symptoms are on the inside.
It has been shown that the stigma associated with SCD can lead to sufferers not actively seeking medical care or to the undermanagement of symptoms. There may be some reluctance to seek medical treatment because of suspicions of drug dependence arising from the chronic, frequent, and severe pain episodes that require use of stronger analgesics and/or opioids.
HCPs with experience in SCD can help improve the management of symptoms and navigate the racial and social inequalities of the disease. However, there is unfortunately a lack of specialists available to patients.
Widespread education and an understanding of the physical and social impacts of sickle cell can help improve patient experiences.
Change for SCD is long overdue.
Despite recent investment and innovations, the life expectancy of people living with SCD is too short. In the U.S., the median age of death for people with sickle cell disease is 43-46 years.
The current standard of care and management of SCD relies on the lifelong use of acute and chronic therapies that do not address the underlying cause of disease. The only curative option, allogeneic hematopoietic stem cell transplantation (allo-HSCT), is limited to younger patients with a matched sibling donor.
The current treatments include:
- Prescriptions: They aim to lessen the frequency and severity of pain crises, improve hemoglobin levels and reduce blood transfusions and hospitalizations.
- Blood transfusions: For some patients, transfusions can help relieve symptoms and potentially prevent stroke and other complications. The risks can include an immune response to the donated blood, infection, and excess iron build up in the body.
- HSCT (hematopoietic stem cell transplant): More commonly known as a “bone marrow transplant,” it is currently the only treatment that can lead to a cure. However, HSCTs are usually limited to people under the age of 18 who have a matched sibling donor available.
Despite these therapies, most patients continue to experience clinical symptoms, progressive organ damage, and other substantial morbidities, which contribute to decreased quality of life, sociopsychological challenges, and early mortality.
Find out more
You can find more information about sickle cell disease by visiting patient resources.
References:
Kato GJ, Piel FB, Reid CD, et al. Sickle cell disease. Nat Rev Dis Primers. 2018;4:18010.
Chaturvedi S, Ghafuri DL, Jordan N, Kassim A, Rodeghier M, DeBaun MR. Clustering of end-organ disease and early mortality in adults with sickle cell disease: A retrospective-prospective cohort study. Am J Hematol. 2018;93(9):1153-1160.
Powars DR, Chan LS, Hiti A, Ramicone E, Johnson C. Outcome of sickle cell anemia: a 4-decade observational study of 1056 patients. Medicine (Baltimore). 2005;84(6):363-376.
Ballas SK, et al. Sickle cell pain: a critical reappraisal. Blood. 2012;120(18):3647–3656.
Brandow AM, Zappia KJ, Stucky CL. Sickle cell disease: a natural model of acute and chronic pain. Pain. 2017;158 Suppl 1:S79-S84.
Piel FB, Steinberg MH, Rees DC. Sickle cell disease. N Engl J Med. 2017;376(16):1561-1573.
Bernaudin F et al. Impact of early transcranial Doppler screening and intensive therapy on cerebral vasculopathy outcome in a newborn sickle cell anemia cohort. Blood. 2011;117(4):1130-1140.
Stotesbury H et al. Vascular instability and neurological morbidity in sickle cell disease: an integrative framework. Front Neurol. 2019;10:871.
Friend A and Girzadas D. Acute chest syndrome. In: StatPearls; 2020. Available at: https://www.ncbi.nlm.nih.gov/books/NBK441872. Accessed April 2022.
US Preventive Services Task Force. Screening for sickle cell disease in newborns: recommendation statement. Am Fam Physician. 2008;77(9):1300-1302.
Hassell KL. Population estimates of sickle cell disease in the U.S. Am J Prev Med. 2010;38(4 Suppl):S512 521.
Centers for Disease Control and Prevention. Data & Statistics on Sickle Cell Disease. Page last reviewed: December 2020. Available at: https://www.cdc.gov/ncbddd/sicklecell/data.html. Accessed April 2022.
Bulgin D, Tanabe P, Jenerette C. Stigma of Sickle Cell Disease: A Systematic Review. Issues Ment Health Nurs. 2018;39(8):675-686.
Payne AB, Mehal JM, Chapman C, Haberling DL, Richardson LC, Bean CJ, Hooper WC. Trends in sickle cell disease-related mortality in the United States, 1979-2017. Ann Emerg Med. 2020;76 (3S):S28-S36.
Chou ST et al. American Society of Hematology 2020 guidelines for sickle cell disease: transfusion support. Blood Adv. 2020;4(2):327-355.
Shenoy 2017 Biol Blood Marrow Transplant 552 Pedi SCD HSCT consensus
van Beers EJ et al. Sickle cell disease-related organ damage occurs irrespective of pain rate: implications for clinical practice. Haematologica. 2008;93(5):757-760.
Kato GJ, Piel FB, Reid CD, et al. Sickle cell disease. Nat Rev Dis Primers. 2018;4:18010.
Chaturvedi S, Ghafuri DL, Jordan N, Kassim A, Rodeghier M, DeBaun MR. Clustering of end-organ disease and early mortality in adults with sickle cell disease: A retrospective-prospective cohort study. Am J Hematol. 2018;93(9):1153-1160.
Powars DR, Chan LS, Hiti A, Ramicone E, Johnson C. Outcome of sickle cell anemia: a 4-decade observational study of 1056 patients. Medicine (Baltimore). 2005;84(6):363-376.
Ballas SK, et al. Sickle cell pain: a critical reappraisal. Blood. 2012;120(18):3647–3656.
Brandow AM, Zappia KJ, Stucky CL. Sickle cell disease: a natural model of acute and chronic pain. Pain. 2017;158 Suppl 1:S79-S84.
Piel FB, Steinberg MH, Rees DC. Sickle cell disease. N Engl J Med. 2017;376(16):1561-1573.
Bernaudin F et al. Impact of early transcranial Doppler screening and intensive therapy on cerebral vasculopathy outcome in a newborn sickle cell anemia cohort. Blood. 2011;117(4):1130-1140.
Stotesbury H et al. Vascular instability and neurological morbidity in sickle cell disease: an integrative framework. Front Neurol. 2019;10:871.
Friend A and Girzadas D. Acute chest syndrome. In: StatPearls; 2020. Available at: https://www.ncbi.nlm.nih.gov/books/NBK441872. Accessed April 2022.
US Preventive Services Task Force. Screening for sickle cell disease in newborns: recommendation statement. Am Fam Physician. 2008;77(9):1300-1302.
Hassell KL. Population estimates of sickle cell disease in the U.S. Am J Prev Med. 2010;38(4 Suppl):S512 521.
Centers for Disease Control and Prevention. Data & Statistics on Sickle Cell Disease. Page last reviewed: December 2020. Available at: https://www.cdc.gov/ncbddd/sicklecell/data.html. Accessed April 2022.
Bulgin D, Tanabe P, Jenerette C. Stigma of Sickle Cell Disease: A Systematic Review. Issues Ment Health Nurs. 2018;39(8):675-686.
Payne AB, Mehal JM, Chapman C, Haberling DL, Richardson LC, Bean CJ, Hooper WC. Trends in sickle cell disease-related mortality in the United States, 1979-2017. Ann Emerg Med. 2020;76 (3S):S28-S36.
Chou ST et al. American Society of Hematology 2020 guidelines for sickle cell disease: transfusion support. Blood Adv. 2020;4(2):327-355.
Shenoy 2017 Biol Blood Marrow Transplant 552 Pedi SCD HSCT consensus
van Beers EJ et al. Sickle cell disease-related organ damage occurs irrespective of pain rate: implications for clinical practice. Haematologica. 2008;93(5):757-760.