Abstract

SANCHEZ MAGDALENO, Mariana et al. Hypoxemia as the only manifestation of structural hemoglobinopathy. Rev Pediatr Aten Primaria [online]. 2019, vol.21, n.83, pp.e125-e127.  Epub Dec 09, 2019. ISSN 1139-7632.

Structural hemoglobinopathies are the result of gene mutations that cause alterations in the molecular structure of hemoglobin. They have a very variable clinical expression: from minimally symptomatic to severe pathology. We present the case of a 3-year-old boy admitted for atypical pneumonia with hypoxemia who, after 11 days of admission, maintained peripheral oxygen saturations (SpO) of 92-94% without other symptoms, physical examination and normal cardiopulmonary study. In outpatient follow-up, peripheral desaturation persists with gasometry and normal arterial co-oxymetry. Patient's father with the same findings in pulse oximetry as in arterial blood gases. When a structural hemoglobinopathy was suspected, a genetic and electrophoretic study was performed, detecting the presence of hemoglobin Arta.

Keywords : Hemoglobinopathy; Hypoxemia; Pulse oximetry.

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