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Efecto de la hidroxiurea en hemoglobina S
... Éstas alteran la estructura de la membrana eritrocitaria favoreciendo la adherencia del drepanocito al endotelio vascular, uno de los principales factores desencadenantes de las crisis vaso oclusivas. Está descripto que la presencia de moléculas de HbF entre las de HbS reduce la posibilidad de contacto, la polimerización, el número de células densas, la hemólisis y consecuentemente los eventos vasooclusivos 9 . ...
... Éstas alteran la estructura de la membrana eritrocitaria favoreciendo la adherencia del drepanocito al endotelio vascular, uno de los principales factores desencadenantes de las crisis vaso oclusivas. Está descripto que la presencia de moléculas de HbF entre las de HbS reduce la posibilidad de contacto, la polimerización, el número de células densas, la hemólisis y consecuentemente los eventos vasooclusivos 9 . ...
Sickle cell syndrome HbS/β thalassemia is an inheritable mendelian type disease where two affected alleles are simultaneously present, one from HbS (βS) and the other from β thalassemia. That situation is mainly linked to individuals who share African and Mediterranean ancestors. The mutation responsible for HbS is a point mutation, whereas for β thalassemia, there are more than 200 mutations that cause different degrees of deficiency synthesis of β globin chain, which justifies the clinical and genetic heterogeneity of this syndrome. It is presented a clinical case of a young adult man with limited resources that consulted by longstanding bone pain. The patient presented anemia with a marked microcytosis. Hemoglobin electrophoresis was performed, an abnormal peak in position of HbS and high HbA2 fraction were detected. These last results indicated two possible molecular alterations simultaneously, for this reason the molecular study was performed looking for the most common β thalassemia mutations in our population and, the point mutation responsible for S hemoglobinopathy. Clinical data and biochemical laboratory allowed the diagnosis of sickle cell syndrome. The molecular study confirmed the syndrome carrying mutations IVS-I nt 110 G > A, responsible for β thalassemia and, codon 6 A > T (GAG → GTG: Glu → Val) responsible for S hemoglobinophaty. Since it is a disease of high health impact, it is important to provide genetic counseling to the whole family. © 2016, Instituto de Investigaciones Medicas. All rights reserved.
SUMMARY Sickle cell disease is caused by the substitution of glutamic acid for valine in the 6th position of the !-hemoglobin chain. This mutation causes a distortion in red blood cell shape and affects its morphology, structure and function. Vaso-occlusive crises, in different sites, are responsible for most of the severe complications of this disease. The acute chest syndrome, one of the clinical manifestations of this condition, affects about 40% to 50% of patients with sickle cell disease. We report an 11-year old girl with sickle cell disease, who had an acute chest syndrome. We describe her clinical presentation, outcome and treatment.
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