Sickle Cell Disease the most common genetic blood disorder worldwide, but receives comparatively meager research funding. Each year, approximately 500,000 babies worldwide are born with it, with children of African, Latino, Mediterranean and South Asian descent most impacted.
Sickle cell disease is in a group of the most common form of genetic blood disorders. The “sickle” refers to the genetic mutation that changes red blood cells from a donut shape to a sickle (curved) shape. Sickle red cells are also “sticky,” and tend not to flow well through blood vessels. As these cells stick together they block blood vessels causing pain and damage to the bones, heart, lungs, eyes, brain and spleen. People with sickle cell disease live with daily pain, are prone to extended painful crises and strokes. Infection is also a significant part of sickle cell disease and a major cause of death for many children living with it worldwide.
Since the early 1990s, universal newborn screening programs include testing for sickle cell (as part of what’s called a hemoglobinopathy test). While newborn screening helps the youngest among us, many parents are aware of their own sickle cell status.
Newborn screening is crucial so that treatment may begin early. Infants with sickle cell disease are given daily antibiotics to prevent serious infection and closer monitoring for complications. Care for sickle cell disease also includes hydration, pain medication, and blood transfusions. Currently in the US there is only one medication, Hydroxyurea, that reduces cell sickling and pain crises. These care measures have increased life expectancy for people sickle cell to mid-forties from what previously used to be the early teens. Currently, bone marrow transplantation is the only cure.
In the United States alone it is estimated that 70,000-100,000 people live with sickle cell disease with one in 12 patients being African Americans, and approximately 1,000 babies are born in the US with it annually. Sickle cell is considered a rare disease because any disease group that has less than 200,000 cases in the US is considered rare; this classification impacts how research into treatments and cures is funded.
There is controversy as to why sickle cell disease has not received the same support as other rare diseases. Often sickle cell disease is perceived as a “black” disease or disease only impacting people of color. Although federal funding for genetic diseases is about equal, there are substantially fewer private donations for research and treatment for sickle cell disease. Until recently sickle cell disease has also been perceived as a childhood disease and as sickle cell patients transition into adulthood there is limited and fragmented support for care and treatment. There is at least some public push for awareness. In 2008, United Nations declared June 19th as World Sickle Cell Day. So today, on World Sickle Cell Day, here’s what you can do to help:
- Learn more about Sickle Cell Disease
- Donate Blood
- Become a bone marrow donor
- Advocate for more funding for sickle cell disease treatment, research and training of health care providers
National Institutes of Health. What is Sickle Cell Disease? National Heart Lung and Blood Institute. Last updated June 12, 2015. Retrieved June 18, 2015.
Nemours Kids Health. Blood Test: Hemoglobin Electrophoresis. Retrieved June 18, 2015.
World Health Organization. Sickle Cell Disease and Other Haemogloben Disorders. Last updated January 2011. Retrieved June 18, 2015.
National Institutes of Health. Medline Plus: Hydroxyurea. U.S. National Library of Medicine. Last revised May 15, 2013. Retrieved June 18, 2015.
Centers for Disease Control and Prevention. Sickle Cell Disease (SCD) Data and Statistics. Last updated September 16, 2011. Retrieved June 18, 2015.
Smith et al. Sickle Cell Disease: A Question of Equity and Quality. Pediatrics. May 2006. Vol. 117 No. 5 May 1, 2006 pp. 1763 -1770
Manious, A. Et al. Attitudes Toward Management of Sickle Cell Disease and it’s Complications: A National Survey of Academic Family Physicians. Anemia. 2015, DOI 853835
Centers for Disease Control and Prevention. New Study Findings: Are Family Physicians Comfortable Treating People With Sickle Cell Disease? Sickle Cell Disease. Last updated May 22, 2015. Retrieved June 18, 2015.
Facts about Sickle Cell Disease http://www.cdc.gov/ncbddd/sicklecell/facts.html
One Disease Hits Mostly People of Color. One Mostly Whites. Which Gets Billions in Funding? http://www.motherjones.com/environment/2015/05/sickle-cell-cystic-fibrosis-funding-race