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Sickle Cell Anemia at Altitude: a Case Report

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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. 

http://www.healthnucleus

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. 

https://www.flickr.com/photos/nihgov/27669979993

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

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The Legacy of the Mountain Guru: Prof. Dr. Gustavo Zubieta-Castillo

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We’ve published a series of accounts from Dr. Chris’s recent attendance at the 7th Annual Chronic Hypoxia conference in La Paz, Bolivia , conducted by Dr. Gustavo Zubieta-Castillo. He is one of the world’s leading experts of altitude medicine and Dr. Chris’s collaboration and contact with him has added literally phenomenal insight into our own high altitude research.

Dr. Chris “en Teleférico” with fellow altitude researchers Vanessa Moncada, Diana Alcantara Zapata, Dzhunusova G. S., Oscar Murillo, and Alex Murillo. Photo courtesty of Dr. Zubieta-Castillo.

There is something literarily romantic about the scientists who are compelled to remind you, “I’m not crazy!” Dr. Zubieta-Castillo has held soccer games at 6,542 m (21,463′), proving the remarkable adaptability of the human body. He maintains a high altitude training lab, called the Chacaltaya Pyramid, at 5,250 m (17,224′). In his recent video (below), he illustrates the connection between longevity and elevation, where citizens of the highest cities in South America live to be well over 100.

It’s notable that a city known for its wine at 2,790 m (9,153′), called Chuquisaca, boasts some of the oldest residents. Not surprisingly, our research has led us to some speculation on the relationship between alcohol and the body at altitude. Additionally affirming is Dr. Zubieta-Castillo’s father, nicknamed “El Guru de la Montaña”, who began his legacy of altitude research and medicine by examining the hearts of dogs at altitude (sound familiar? See our article on Dogs at Altitude), as well as Dr. Zubieta-Castillo’s own testament that asthma can be and has been treated by altitude (see Asthma at Altitude).

His latest correspondence with Dr. Chris and their mutual colleagues reads like letters written by history’s greatest scientists, beginning,

Dear Colleague Scientists:

The 7th Chronic Hypoxia Symposium, thanks to your outstanding participation was a great success !! We shared great scientific, friendship and enthusiasm from 16 countries, along with travel and conferences in fascinating environments, all at high altitude.

The letter ends with an invitation to all colleagues to contribute their own research to the first chronic hypoxia-dedicated issue in a top medical journal, so be on the lookout for Dr. Chris’s contribution (which we will be sure to share here).

The video below is a fascinating look into some of Dr. Zubieta-Castillo’s latest research, including his theories and recommendations on conditioning humans in space with hypoxia, a dissertation that was initially dismissed as irrelevant, then subsequently published. Enjoy!

robert-ebert-santos

Roberto Santos is from the remote island of Saipan, in the Commonwealth of the Northern Mariana Islands. He has since lived in Japan and the Hawaiian Islands, and has made Colorado his current home, where he is a web developer, musician, avid outdoorsman and prolific reader. When he is not developing applications and graphics, you can find him performing with the Denver Philharmonic Orchestra, snowboarding Vail or Keystone, soaking in hot springs, or reading non-fiction at a brewery.

Acclimation, Altitude Science, Child Growth & Development, Doc Talk, Genetics, Health, High Altitude, Medicine

Adaptation v.s. Aclimatization

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Why don’t babies in Nepal and La Paz need oxygen? 

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Dr. Chris in La Paz with 20 year old Maria and her mother

Research comparing ethnic groups that have lived at high altitude for centuries, such as native Tibetans, and more recent immigrants such as the Han Chinese in Tibet, showed changes in adaptation. People living in the Andes, Himalayas and mountains of Ethiopia have higher lung volumes, more nitric oxide in the blood, high oxygen-carrying hemoglobin levels and increased respiratory rates which are genetic.

Those of us living in the mountains of Colorado have been here at the most 150 years, not long enough to establish gene-based adaptation. We do acclimatize over weeks and months with changes in hemoglobin levels, respiratory rates and lung volumes but not to the extent of the above populations.

During my travels to La Paz Bolivia and Cuzco, Peru I noticed the people were smaller. At Ebert Family Clinic we analyzed over 10,000 pieces of growth data on children up to four years old from our electronic medical record. A high percent are below the standard growth chart: seven percent compared to three percent. Most catch up by age two years.