Martin, a 27-year-old African American male, presents to a rural mountain hospital with complaints of left upper quadrant abdominal pain. Martin arrived at altitude (9,400 feet) two days ago from Oklahoma City after a 12-hour drive. Shortly after arriving to his condo in the mountains, Martin developed a dull aching pain to his left upper quadrant. The pain is constant but radiates to his L flank intermittently. Martin tried snowboarding today but had to end his day early because the pain became too severe. Martin cannot identify any aggravating or relieving factors and states that ibuprofen “didn’t even touch the pain.” Martin denies associated nausea, vomiting, diarrhea, constipation, urinary symptoms, fevers, chills, enlarged lymph nodes, or fatigue. His medical history is significant sickle cell trait without active disease. He has a negative surgical history, takes no daily medications, and has no known allergies. *
Differential diagnoses considered include kidney stones, pancreatitis, gastritis, diverticulitis, splenic enlargement, an infarcted spleen, or mononucleosis. Laboratory tests ordered include a complete blood count, reticulocyte count (indicator of immature red blood cells production), lactate dehydrogenase (an indicator of red blood cell destruction), haptoglobin (a binding protein that binds free hemoglobin after red blood cell destruction), a complete metabolic panel, and a urine analysis. A CT scan of the abdomen with contrast was also ordered and performed.
Martin’s results showed an elevated white blood cell count, sickled cells on his blood smear, mildly elevated reticulocyte count and lactate dehydrogenase, low haptoglobin, and an elevated bilirubin. The remainder of his blood work was unremarkable. The CT scan showed a 40% infarction of his spleen. Martin was treated with oxygen, fluids, and IV pain medication and was promptly transferred to a larger hospital at lower elevation.
What caused all of this to happen?
Sickle cell anemia (SCA) is a mutation of the HBB gene that affects the development of normal hemoglobin, the major oxygen transporting protein in the body. SCA is an autosomal recessive genetic disorder which means that two copies of the abnormal gene have to be passed on from both parents in order for the disease to be active in the offspring. So, in other words, if both parents are carriers of the abnormal gene, their offspring have a 25% chance of developing the active disease and a 50% chance of becoming carriers themselves.
The hemoglobin protein is made up of four subunits, 2 alpha-globin and 2 beta-globin. Sickle cell carriers will have a mutation of one of the beta-globin units, resulting in no clinical manifestations of the disease. These individuals live normal lives and are virtually unaffected by the mutation, as seen in Martin’s case. Individuals with active disease will have a mutation in both of the beta-globin subunits, creating sickling of their red blood cells. Sickling of red blood cells makes them less flexible in maneuvering through the vasculature, ultimately resulting in a blockage of blood flow to various tissues in the body. This is cause of severe pain that many individuals experience when in crisis. Sickled cells are also more prone to destruction leading to an anemic state and are inefficient oxygen transporters.
The sickle cell mutation is typically found in certain ethnic groups which is thought to be related to the protective quality of sickled cells from the development of Malaria. The ethnic groups most likely to be affected include African Americans, Sub-Saharan Africans, Latinos, Indians, Individuals from Mediterranean descent, and those from the Caribbean.
But if Martin was a carrier without active disease, why did he develop sickle cell anemia?
Individuals with the sickle cell trait can cause their cells to sickle under extreme stress including during strenuous exercise, severe dehydration, and when at high altitude. The resulting consequence is the manifestation of all of the symptoms of active disease. Although Martin had never had any symptoms related to his sickle cell trait, he was now in full sickle cell crisis that required immediate intervention.
What are the implications?
Individuals from any of the ethnic groups listed above should be tested for the sickle cell trait to ensure they are not carriers. A carrier must exercise extreme caution in ascending to high altitude, should stay well hydrated, and avoid strenuous exercise to prevent the development of a sickle cell crisis.
*Case scenario is not based on any individual patient rather a compilation of varying presentations seen in the emergency department.
Liya is 3rd year Doctor of Nursing Practice Student attending North Dakota State University. She lives in Breckenridge, Colorado and works as a registered nurse in the Emergency department. Liya was born in Latvia and moved to the United States in 1991 with her family. She grew up in the Washington, DC area until she moved to Colorado in 2012. She is passionate about helping immigrant families and other underserved individuals gain access to basic healthcare services. She hopes to work in Family Medicine in a federally qualified health center in the Denver metro or surrounding areas. In her spare time, Liya enjoys hiking, snowboarding, biking, and camping.
References
Adewoyin A. S. (2015). Management of sickle cell disease: A review for physician education in Nigeria (sub-Saharan Africa). Anemia, 2015. doi:10.1155/2015/791498
American Society of Hematology. (n.d). Sickle cell trait. Retrieved from https://www.hematology.org/Patients/Anemia/Sickle-Cell-Trait.aspx
Mayo Clinic. (2018). Sickle cell anemia. Retrieved from https://www.mayoclinic.org/diseases-conditions/sickle-cellanemia/symptoms causes/syc-20355876
U.S National Library of Medicine. (2019). Sickle cell disease. Retrieved from https://ghr.nlm.nih.gov/condition/sickle-celldisease#inheritance
Yale, S.H,, Nagib, N., & Guthrie, T. (2000). Approach to the vasoocclusive crisis in adults with sickle cell disease. American Family Physicians, 61(5), 1349-1356. Retrieved from https://www.aafp.org/afp/2000/0301/p1349.html
