June 19th is World Sickle Cell Day.
Informational Piece on Sickle Cell Disease and Sickle Cell Trait.
By Stephen Agyenim-Boateng, PharmD | Sickle Cell 101
On December 22, 2008, the General Assembly of the United Nations (UN) created a resolution that recognized sickle cell disease as a global public health concern. This resolution urged the member countries and UN organizations to raise awareness at national and international levels on the 19th of June annually. The first World Sickle Cell Day was celebrated on June 19, 2009.
Sickle cell disease is an inherited disorder that causes red blood cells to become hard, sticky, and look like a C-shaped farm tool called a “sickle’’. Researchers learned that the change in shape was due to a glutamic acid switch to valine at the biochemical level (Figure 1).
People with sickle cell disease inherit the sickle hemoglobin gene from both parents (Figure 2). Their red blood cells can make only sickle hemoglobin. Hemoglobin is a protein in red blood cells which carries oxygen from the lungs to the rest of the body. When red blood cells are sickled, they get caught on the walls of tiny blood vessels, and stick to one another forming clumps inside the blood vessels. These clumps can cause pain, infections, organ damage, and many other complications.
For a person who inherits a sickle hemoglobin gene from one parent and a gene for normal hemoglobin from the other parent, they have sickle cell trait (Figure 3). Their red blood cells make both normal and sickle hemoglobin. Although not as common, people with sickle cell trait can experience complications under extreme conditions such as high altitude, severe dehydration, or very high intensity physical activity; their red blood cells can become deformed or sickled. Sickle cell trait can also interfere with some A1C tests; both laboratory and point-of-care tests. The National Institute of Diabetes and Digestive and Kidney Diseases confirms that the hemoglobin A1C assay may be unreliable for diagnosing and monitoring diabetes and prediabetes in individuals with sickle cell trait and other hemoglobinopathies.
According to the American Society of hematology, a very rare form of kidney cancer called renal medullary carcinoma has been associated with sickle cell trait and there have been some case reports on this association. In general, most people with sickle cell trait have no symptoms and will not have any health complications.
The World Health Organization estimates over 300,000 babies are born yearly with severe hemoglobin disorders. Sickle cell disease affects millions of people worldwide among all races and ethnicities. It is particularly common among inhabitants or people who descend from sub-Saharan Africa, the Caribbean, Central and South America, India, Saudi Arabia, Middle East and Mediterranean countries such as Turkey, Greece, and Italy. Approximately 70,000 to 100,000 individuals in the United States have sickle cell disease and three million have sickle cell trait. The only cure for sickle cell disease is bone marrow or stem cell transplant. In the mid-1990s, the U.S. Food and Drug Administration approved hydroxyurea as a treatment to decrease complications of the disease. People with sickle cell disease should get regular health checkups and consult with their primary care providers about what treatments and ongoing clinical trials will be appropriate for them. It is also encouraged for people especially at risk for sickle cell trait to know their trait status and follow up with their primary care providers if they experience any complications.
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