September National Sickle Cell Awareness Month
This past September marked the thirty-second observance of National Sickle Cell Awareness Month. According to sicklecelldisease.org, the observance was first celebrated in 1975 by the Sickle Cell Disease Association of America, Inc. (SCDAA), and was officially recognized by the U.S. government in 1983, when efforts by the SCDAA triumphed “to have Sickle Cell Month officially recognized at all levels.” The House of Representatives unanimously passed a resolution in favor of recognizing the observance, which then prompted late U.S. President Ronald Reagan to sign the resolution into law in August of that year.
Sickle cell disease (SCD), also known as drepanocytosis and sickle cell anemia (SCA), is a hereditary blood disorder that occurs in the red blood cells. The mutation manifests itself as a malformation in a patient’s hemoglobin, which will typically contain the abnormal molecule hemoglobin type S. This results in the red blood cells taking on a “sickle,” crescent-like shape that can clog up and block blood vessels. According to Mount Sinai Health System, sickle cell mostly “affects people of African, Hispanic, Mediterranean, Middle Eastern and South Asian ancestry.” An estimated 100,000 people suffer with the disease in the U.S. alone, with the majority demographic of patients being black Americans of sub-Saharan and/or central African descent. Sickle cell disease also happens to be the most common genetically transmitted blood disorder in the United States.
People with sickle cell disease are much more prone to developing infections and often experience agonizing bouts of sharp pain in their backs, chests, sides, joints and bones called sickle cell crises. Additionally, people with sickle cell also have to live perpetually with heightened risks of general death and stroke looming over them, along with the prospect of guaranteed organ damage due to reduced blood flow and oxygen exposure throughout their lives. Sickle cell currently has no cure.
Gabriela Hidalgo, pre-med junior and visual arts studies major, said, “I know that from what we discussed in class it’s a switch from one amino acid, the glutamate 6 to valine 6, which is what causes it [red blood cell] to fold up, and obviously there’s probably [more] studies being done… there’s no medication out right now that can reverse that or anything.” Hidalgo was not aware that September is officially recognized as National Sickle Cell Awareness Month, and when asked what she thought that should be done regarding sickle cell in the U.S., she said, “I think that just ongoing research would definitely be at the forefront, because if you stop paying attention to that then you totally forgo any possibilities of curing these diseases or just stopping them from continuing on into the next generation.”
Because sickle cells themselves are faulty mutated cells, the human body spares no expense in trying to eradicate them immediately from its system. This internal struggle puts a heavy strain on patients, as the immune system’s subsequent killing of their cells causes their skin to yellow, in addition to allowing anemia and gallstones to develop as their bodies go to war with themselves. As mentioned above, the blockage/clogging of blood vessels instigated by the misshapen cells and the abnormal type of hemoglobin (oxygen-carrying section of red blood cells) assures that the organs of people with sickle cell will suffer moderate to severe oxygen starvation all their lives. Due to lack of oxygen, the organs of people with sickle cell will always be lagging behind to a certain extent, unable to reach optimal function. The oxygen deprivation issue especially holds serious, life-threatening consequences for the overall function of the brain and spleen. The cumulative lack of oxygen to the brain puts sufferers of sickle cell at an increased risk of suffering silent strokes, a type of minor stroke that typically does not exhibit any outward symptoms, even to the patients themselves. The consequence of impaired spleen function is that the spleen is designed to fight off most bacterial infections, meaning that if the spleen is impaired, a patient’s immune system can become overloaded between constantly having to kill off sickle cells while simultaneously trying to fight off any foreign pathogens entering the body.
Despite the morbid description and odds described above about the rigors of living with SCD, doctors have made enormous research strides in the last 30 years regarding the treatment of sickle cell patients, along with the subsequent extension and improvement of their lives. Prior to the 1950s, being diagnosed with sickle cell disease used to be considered a death sentence. It wasn’t until 1949, when Nobel prize-winning chemist Linus Pauling published his scientific paper “Sickle Cell Anemia, a Molecular disease,” that sickle cell disease’s exact molecular/genetic flaw was discovered. Even still in the 1970s, being diagnosed with sickle cell often guaranteed most newborns a short and painful life, with loved ones powerless to do anything other than watch their children, grandchildren, and siblings die slowly. According to Laura Hambleton, a health and science reporter for The Washington Post, “A 1973 study put the average life expectancy after diagnosis, which usually occurred in childhood, at around 14 years.”
Since that time, multiple highly successful treatment methods have been discovered to help SCD patients live longer than any time before. These methods include bone marrow transplants, folic acid supplementation, and oral penicillin regimens, all of which have been proven to help ease the symptoms of SCD crises while also fortifying the immune system. However, the most effective and aggressive treatments for SCD have been shown to be the medication, Hydroxyurea, and blood transfusion therapy.
Hydroxyurea is a prescription drug that is marketed in the United States under the names hydroxycarbamide and droxia. According to ncbi.nlm.nih.gov, Hydroxyurea is a wide-spectrum antineoplastic medication that was first synthesized in Germany in 1869, and can be used to fight cancerous tumors due to the chemotherapeutic effects it exerts over the body. Research and clinical trials have proven that the medication greatly reduces the severity and recurrence of pain attacks in SCD patients, in addition to possibly elongating their lives. Blood transfusions, though tedious, have also been found to be very effective in the treatment of SCD, as they help sufferers of the disease avoid pain attacks and blood vessel blockages by replacing the sickle cells in their blood with healthy new red blood cells. These two therapies have been instrumental in the fight to make sickle cell a livable affliction, and according to the eighth edition of Robbins and Cotran Pathologic Basis of Disease, an estimated 90 percent of sickle cell patients today now live past age 20, with another 50 percent now living past age 50.
Juan Lopez, a human nutrition senior and certified pharmacy technician, said that he had neither heard of sickle cell disease prior to taking biochemistry at UF, nor known that September was officially recognized as National Sickle Cell Awareness Month. “I do feel like we need to raise awareness about these diseases,” Lopez said. “It shouldn’t be that you have to take a science class on your own to learn about diseases, sickle cell, or any diseases.”
When asked for his opinion of how doctors should approach the bedside manner aspect of treating patients with sickle cell, Lopez, also on the pre-med track, said, “I feel like it’s’s essential to let them know that it’s going to be a rough time, that it’s not going to be easy, it’s going to be a long fight, but as a medical professional I’ll do all that I can to make their life, living, a little bit easier.” Lopez added that if he were put in a situation where he was treating sickle cell patients that he obviously wouldn’t be able to promise them that he could be able to cure them from a cureless disease, but that he would do everything in his power to ease the mental and physical pain associated with their ailment.
If you’re interested in learning more about how you can help people coping with sickle cell disease, please visit the Sickle Cell Disease Association of America, Inc.’s website at http://www.sicklecelldisease.org/, or call them at 1-800-421-8453.