Abstract

GARCES MENDOZA, Manuel Cristóbal  and  ESCOBAR PAREDES, Daniel Alejandro. ELUCIDATING THE PHENOTYPE IN A SICKLE CELL DISEASE CASE. Rev Cient Cienc Méd [online]. 2019, vol.22, n.1, pp.68-72. ISSN 2077-3323.

Sickle cell anemia is a common genetic disease in which the inheritance of two mutant hemoglobin genes, one from each parent produces a hemoglobinopathy. It is a chronic disease with acute exacerbations that cause long-term effects on education, family life, social integration and the patient's quality of life. The clinic is summarized in vaso-occlusion and tissue ischemia, hemolytic anemia and susceptibility to infections. We present the case of a 28 years old black male, suffering from a vaso-occlusive crisis, hemolytic disorder and normocytic anemic syndrome.

Keywords : Anemia; Sickle cell; Anemia; Hemolytic; hydroxyurea; Fetal Hemoglobin.

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