Amaru R, Quispe T, Torres G, Mamani J, Aguilar M, Miguez H, Peñaloza R, Velarde J, Patón D, Ticona J, Cuevas H

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

ABSTRACT

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 JAK2^V617F 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 JAK2^V617F gene mutation. The most important clinical feature was the absence of thrombotic events in relation to secondary erythrocytosis and polycythemia vera.

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