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>Journals >Revista de Hematología >Year 2016, Issue 1

Amaru R, Quispe T, Torres G, Mamani J, Aguilar M, Miguez H, Peñaloza R, Velarde J, Patón D, Ticona J, Cuevas H
Clinical characterization of high altitude pathological erythrocytosis
Rev Hematol Mex 2016; 17 (1)

Language: Español
References: 29
Page: 8-20
PDF: 773.75 Kb.

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Background: Low partial pressure of oxygen at high altitudes and different exposure times of Tibetan and Andean populations have allowed natural selection and genetic adaptation that differ from each one. In The Andes region, there are dwellers affected by a type of erythrocytosis that has own characteristics in relation to other pathological erythrocytosis.
Objective: To describe a specific erythrocytosis of the Andean population: high altitude pathological erythrocytosis (HAPE).
Material and Method: A descriptive study that included 40 peripheral blood and bone marrow samples to establish the biological characterization. Then, 175 subjects were evaluated to determine the clinical characteristics. Subjects were all men living in La Paz and El Alto cities (Bolivia) at 3,600 and 4,000 m.a.s.l., respectively. Clinical follow-up considered biomolecular studies and outpatient assessments.
Results: HAPE patients reflected an increased hemoglobin and hematocrit; however, fetal hemoglobin and methemoglobin levels were normal. Likewise, reticulocytes rate was increased; serum erythropoietin concentration was normal, there was no mutation of JAK2V617F gene and the apoptosis was delayed in relation to normal controls. The clinic was represented by hyperviscosity syndrome and cyanosis.
Conclusions: High altitude pathological erythrocytosis is a new clinical entity with own characteristics and it is present in Andean dwellers. The most representative biomolecular features were normal serum erythropoietin levels, delayed apoptosis, presence of endogenous BFU-E colonies and no JAK2V617F gene mutation. The most important clinical feature was the absence of thrombotic events in relation to secondary erythrocytosis and polycythemia vera.

Key words: high altitude pathological erythrocytosis, erythrocytosis.


  1. Cracraft J. The scientific response to creationism. Department of Astronomy, University of Illinois, 1982. Disponible en: .es.wikipedia.org/wiki/Historia_de_la_Tierra.

  2. Futuyma DJ. Evolution. Sunderland, Massachusetts: Sinuer Associates, 2005. ISBN0-87893-187-2. Disponible en: es.wikipedia.org/wiki/Historia_de_la_vida

  3. Storz JF. Genes for high altitudes. Science 2010;329:40-41. doi:10.1126/science.1192481.

  4. Moore LG. Human genetic adaptation to high altitude. High Alt Med Biol 2001;2:257-279.

  5. Scheinfeldt LB, Soi S, Thompson S, Ranciaro A, et al. Genetic adaptation to high altitude in the Ethiopian highlands. Genome Biol 2012;13:R1.

  6. Rademaker K, Hodgins G, Moore K, Zarrillo S, et al. Paleoindian settlement of the high-altitude Peruvian Andes. Science 2014;346:466-469. doi: 10.1126/science. 1258260.

  7. Pasha MA, Newman JH. High-altitude disorders: pulmonary hypertension: pulmonary vascular disease: the global perspective. Chest 2010;137:13-19.

  8. Lorenzo FR, Huff C, Myllymäki M, Olenchock B, et al. A genetic mechanism for Tibetan high-altitude adaptation. Nat Genet 2014;46:951-956.

  9. Simonson TS, Yang Y, Huff CD, et al. Genetic evidence for high-altitude adaptation in Tibet. Science 2010;329:72-75. doi:10.1126/science.1189406.

  10. Tashi T, Feng T, Koul P, Amaru R, et al. High altitude genetic adaptation in Tibetans: no role of increased hemoglobinoxygen affinity. Blood Cells Mol Dis 2014;53:27-29.

  11. Ge GL, Simonson TS, Cooksey RC, Tanna U, et al. Metabolic insight into mechanisms of high-altitude adaptation in Tibetans. Mol Genet Metab 2012;106:244-247.

  12. Petousi N, Robbins PA. Human adaptation to the hypoxia of high altitude: the Tibetan paradigm from the pregenomic to the postgenomic era. J Appl Physiol 2014;116:875-884.

  13. Beall CM. Genetic changes in Tibet. High Alt Med Biol 2011;12:101-102.

  14. Simonson TS, Yang Y, Huff CD, Yun H, et al. Genetic evidence for high-altitude adaptation in Tibet. Science 2010;329:72-75.

  15. Beall CM. Two routes to functional adaptation: Tibetan and Andean high-altitude natives. Proc Natl Acad Sci 2007;104:8655-8660.

  16. Barminko J, Reinholt B, Baron MH. Development and differentiation of the erythroid lineage in mammals. Dev Comp Immunol 2015. doi: 10.1016/j.dci.2015.12.012.

  17. Liu J, Han X, An X. Novel methods for studying normal and disordered erythropoiesi. Sci China Life Sci 2015;58:1270-1275.

  18. Moura IC, Hermine O, Lacombe C, Mayeux P. Erythropoiesis and transferrin receptors. Curr Opin Hematol 2015;22:193-198.

  19. Finazzi G, Gregg XT, Barbui T, Prchal JT. Idiopathic erythrocytosis and other non-clonal polycythemias. Best Pract Res Clin Haematol 2006;19:471-482.

  20. McMullin MF. The classification and diagnosis of erythrocytosis. Int J Lab Hematol 2008;30:447-459.

  21. Lee G, Arcasoy MO. The clinical and laboratory evaluation of the patient with erythrocytosis. Eur J Intern Med 2015;26:297-302.

  22. Oliver Ruiz JM, González García AE. Síndrome hipoxémico crónico. Rev Esp Cardiol 2009;9:13-22.

  23. Amaru R, Miguez H, Peñaloza R, Torres G y col. Eritrocitosis patológica de altura: caracterización biológica, diagnóstico y tratamiento. Rev Med La Paz 2013;19:5-18.

  24. Gonzales GF. Contribución peruana a la hematología en poblaciones nativas de altura. Acta Andina 1998;7:105.

  25. Pasha MA, Newman JH. High-altitude disorders: pulmonary hypertension: pulmonary vascular disease: the global perspective. Chest 2010;137:13-19.

  26. Whayne TF Jr. Cardiovascular medicine at high altitude. Angiology 2014 ;65:459-472.

  27. Barbui T, Thiele J, Vannucchi AM, Tefferi A. Myeloproliferative neoplasms: morphology and clinical practice. Am J Hematol 2015;30.

  28. Raedler LA. Diagnosis and management of polycythemia vera: proceedings from a multidisciplinary roundtable. Am Health Drug Benefits 2014;7:36-47.

  29. Stein BL, Oh ST, Berenzon D, Hobbs GS, et al. Polycythemia vera: an appraisal of the biology and management 10 years after the discovery of JAK2 V617F. J Clin Oncol 2015;33:3953-3960.

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