SICKLE CELL TRAIT, CLINICAL MANIFESTATIONS AND OUTCOMES: A CROSS-SECTIONAL STUDY
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Keywords
Sickle Cell Trait, Splenic Infarction, Splenic Diseases, Spleen, Hemoglobinopathies
Abstract
Introduction: Sickle cell trait (SCT) is an autosomal recessive blood disorder in which patients are heterozygous carriers for hemoglobin S (HbAS) and are usually asymptomatic. We performed a descriptive analysis of clinical manifestations and outcomes associated with SCT.
Methods: This was a descriptive, cross-sectional study that included patients with SCT from 2014 to 2020 at Hospital Militar Central, the reference center of the Military forces in Bogota, Colombia.
Results: Of 647 hemoglobin electrophoresis analyzed, we identified 51 patients with SCT, including 43 males (84.3%) and eight females (15.7%), with a median age of 22 years (IQR 15–36 years). Of these, 28 (54.8%) were Afro-Colombian, and 23 (45.1%) were Colombian mestizos. Twenty-four patients (47.1%) were asymptomatic, and Twenty-seven patients (52.9%) were symptomatic (systemic complications); splenic complications were the most important (85.2%), p=0.0005, and there was a wide spectrum of splenic complications. We found significant elevations in leukocytes, bilirubin, LDH, and CRP. Eighteen patients (66.7%) received medical management, five patients (18.5%) required splenectomy, and only 5.9% of patients were sent for genetic counseling.
Conclusions: Splenic complications were the most relevant in symptomatic patients. Most patients received medical treatment, and 18.5% of patients required splenectomy. Our results reflect the absence of redirection of these patients to genetic counseling.
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References
[2] Piel FB, Patil AP, Howes RE, Nyangiri OA, Gething PW, Dewi M, Temperley WH, Williams TN, Weatherall DJ, Hay SI. Global epidemiology of sickle haemoglobin in neonates: a contemporary geostatistical model-based map and population estimates. Lancet. 2013 Jan 12;381(9861):142-51. doi: 10.1016/S0140-6736(12)61229-X.
[3] Ojodu J, Hulihan MM, Pope SN, Grant AM, Centers for Disease Control and Prevention (CDC). Incidence of Sickle Cell Trait — United States, 2010. Morbidity and Mortality Weekly Report 2014;63:1155.
[4] Piel FB, Hay SI, Gupta S, Weatherall DJ, Williams TN. Global burden of sickle cell anaemia in children under five, 2010-2050: modelling based on demographics, excess mortality, and interventions. PLoS Medicine 2013;10. https://doi.org/10.1371/JOURNAL.PMED.1001484.
[5] Asfaw SH, Falk GA, Morris-Stiff G, Tuthill RJ, Moorman ML, Samotowka MA. A Unique Cause of Intestinal and Splenic Infarction in a Sickle Cell Trait Patient. Case Reports in Surgery 2013;2013:1–3. https://doi.org/10.1155/2013/580453.
[6] Gonzalez L, Shapiro AF, Tafur A, Plaza-Meneses C, Sabando B. Splenic Infarct Secondary to High Altitude Exposure in Sickle Cell Trait Patients: A Case Series. Cureus 2020;12:e9815. https://doi.org/10.7759/cureus.9815.
[7] Cook AL. Splenic infarction in a high-altitude traveler with undiagnosed sickle cell trait. Wilderness and Environmental Medicine 2008;19:318–20. https://doi.org/10.1580/08-WEME-LE-189.1.
[8] Goodman J, Hassell K, Irwin D, Witkowski EH, Nuss R. The Splenic Syndrome in Individuals with Sickle Cell Trait. High Altitude Medicine & Biology 2014;15:468–71. https://doi.org/10.1089/ham.2014.1034.
[9] Jefferson JM, Sims WM, Umeh N, Byeon YJJ, Abdallah KE, Bonham VL, et al. Splenic infarction in sickle cell trait: A comprehensive systematic review of case studies. EJHaem 2021;2:585–600. https://doi.org/10.1002/jha2.248.
[10] Lane PA. Splenic Syndrome at Mountain Altitudes in Sickle Cell Trait. JAMA 2011;253:2251. https://doi.org/10.1001/jama.1985.03350390093033.
[11] Murano T, Fox AD, Anjaria D. Acute splenic syndrome in an African-American male with sickle cell trait on a commercial airplane flight. Journal of Emergency Medicine 2013;45. https://doi.org/10.1016/j.jemermed.2013.05.009.
[12] Longo T, Shaines M. Case report: Exertional rhabdomyolysis in a spin class participant with sickle cell trait. F1000Research 2019;7. https://doi.org/10.12688/f1000research.16326.2.
[13] Presley TD, Perlegas AS, Bain LE, Ballas SK, Nichols JS, Sabio H, et al. Effects of a single sickling event on the mechanical fragility of sickle cell trait erythrocytes. Hemoglobin 2010;34:24–36. https://doi.org/10.3109/03630260903546999.
[14] Blinder MA, Russel S. Exertional sickling: questions and controversy. Hematology Reports 2014;6:5502. https://doi.org/10.4081/hr.2014.5502.
[15] Seegars MB, Brett AS. Splenic infarction associated with sickle cell trait at low altitude. Hematology 2015;20:607–9. https://doi.org/10.1179/1607845415y.0000000024.
[16] Yanamandra U, Das R, Malhotra P, Varma S. A Case of Autosplenectomy in Sickle Cell Trait Following an Exposure to High Altitude. Wilderness and Environmental Medicine 2018;29:85–9. https://doi.org/10.1016/j.wem.2017.08.021.
[17] Bucknor MD, Goo JS, Coppolino ML. The risk of potential thromboembolic, renal and cardiac complications of sickle cell trait. Hemoglobin 2014;38:28–32. https://doi.org/10.3109/03630269.2013.832689.
[18] Tsaras G, Owusu-Ansah A, Boateng FO, Amoateng-Adjepong Y. Complications Associated with Sickle Cell Trait: A Brief Narrative Review. American Journal of Medicine 2009;122:507–12. https://doi.org/10.1016/j.amjmed.2008.12.020.
[19] Nelson DA, Deuster PA, Carter R, Hill OT, Wolcott VL, Kurina LM. Sickle Cell Trait, Rhabdomyolysis, and Mortality among U.S. Army Soldiers. New England Journal of Medicine 2016;375:435–42. https://doi.org/10.1056/nejmoa1516257.
[20] Webber BJ, Nye NS, Harmon KG, O’Connor FG. Exertional Rhabdomyolysis, Sickle Cell Trait, and “Military Misdirection.” Current Sports Medicine Reports 2021;20:562–3. https://doi.org/10.1249/JSR.0000000000000897.
[21] Buchanan BK, Siebert DM, Zigman Suchsland ML, Drezner JA, Asif IM, O’Connor FG, et al. Sudden Death Associated With Sickle Cell Trait Before and After Mandatory Screening. Sports Health 2020;12:241–5. https://doi.org/10.1177/1941738120915690.
[22] Fernando C, Mendis S, Upasena A, Costa Y, Williams H, Moratuwagama D. Splenic Syndrome in a Young Man at High Altitude with Undetected Sickle Cell Trait. Journal of Patient Experience 2018;5:153–5. https://doi.org/10.1177/2374373517747905.
[23] Yeral M, Boğa C. Is sickle cell trait really innocent? Turkish Journal of Hematology 2021;38:159–60. https://doi.org/10.4274/tjh.galenos.2020.2020.0344.
[24] Busse B, Tepedino M-F, Rupprecht W, Klein H-G. Stepwise diagnostics of hemoglobinopathies. LaboratoriumsMedizin 2016;39. https://doi.org/10.1515/LABMED-2016-0009.
[25] Amer Wahed, Andres Quesada, Amitava Dasgupta, Chapter 4 - Hemoglobinopathies and thalassemias, Editor(s): Amer Wahed, Andres Quesada, Amitava Dasgupta, Hematology and Coagulation (Second Edition), Academic Press, 2020, Pages 51-75, ISBN 9780128149645,
https://doi.org/10.1016/B978-0-12-814964-5.00004-8.
[26] Giordano PC. Strategies for basic laboratory diagnostics of the hemoglobinopathies in multi-ethnic societies: interpretation of results and pitfalls. International Journal of Laboratory Hematology 2013;35:465–79. https://doi.org/10.1111/IJLH.12037.
[27] Serjeant GR. The natural history of sickle cell disease. Cold Spring Harbor Perspectives in Medicine 2013;3. https://doi.org/10.1101/CSHPERSPECT.A011783.
[28] Ossa H, Aquino J, Pereira R, Ibarra A, Ossa RH, Pérez LA, et al. Outlining the Ancestry Landscape of Colombian Admixed Populations. PLoS ONE 2016;11:e0164414. https://doi.org/10.1371/JOURNAL.PONE.0164414.
[29] Homburger JR, Moreno-Estrada A, Gignoux CR, Nelson D, Sanchez E, Ortiz-Tello P, et al. Genomic Insights into the Ancestry and Demographic History of South America. PLOS Genetics 2015;11:e1005602. https://doi.org/10.1371/JOURNAL.PGEN.1005602.
[30] Xu JZ, Thein SL. The carrier state for sickle cell disease is not completely harmless. Haematologica 2019;104:1106–11. https://doi.org/10.3324/haematol.2018.206060.
[31] el Hoss S, Cochet S, Marin M, Lapouméroulie C, Dussiot M, Bouazza N, et al. Insights into determinants of spleen injury in sickle cell anemia. Blood Advances 2019;3:2328–36. https://doi.org/10.1182/bloodadvances.2019000106.
[32] Brousse V, Buffet P, Rees D. The spleen and sickle cell disease: The sick(led) spleen. British Journal of Haematology 2014;166:165–76. https://doi.org/10.1111/bjh.12950.
[33] Rumaney MB, Ngo Bitoungui VJ, Vorster AA, Ramesar R, Kengne AP, Ngogang J, et al. The Co-Inheritance of Alpha-Thalassemia and Sickle Cell Anemia Is Associated with Better Hematological Indices and Lower Consultations Rate in Cameroonian Patients and Could Improve Their Survival. PLoS ONE 2014;9. https://doi.org/10.1371/JOURNAL.PONE.0100516.
[34] Ladu AI, Aiyenigba AO, Adekile A, Bates I. The spectrum of splenic complications in patients with sickle cell disease in Africa: a systematic review. British Journal of Haematology 2021;193:26–42. https://doi.org/10.1111/BJH.17179.
[35] Luu S, Spelman D, Woolley IJ. Post-splenectomy sepsis: preventative strategies, challenges, and solutions. Infection and Drug Resistance 2019;12:2839. https://doi.org/10.2147/IDR.S179902.
[36] Acharya K, Lang CW, Ross LF. A pilot study to explore knowledge, attitudes, and beliefs about sickle cell trait and disease. Journal of the National Medical Association 2009;101:1163–72. https://doi.org/10.1016/S0027-9684(15)31113-5.
[37] Pecker LH, Naik RP. The current state of sickle cell trait: Implications for reproductive and genetic counseling. Blood 2018;132:2331–8. https://doi.org/10.1182/blood-2018-06-848705.
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