Artículo

Severe Hemolytic Anemia due to De novo Hemoglobin Sabine in an argentinian newborn: first case in South America

Perez, Susana; Bragós, Irma; Raviola, Mariana; Pratti, Arianna; Detarsio, Germán; Zirone, Sandra; Voss, María Eda; Verón, Luciano; Acosta, Irma; Ojeda, Mara JorgelinaIcon
Fecha de publicación: 2015
Editorial: SCIENCEDOMAIN international
Revista: International Blood Research & Reviews
ISSN: 2321-7219
Idioma: Inglés
Tipo de recurso: Artículo publicado
Clasificación temática:

Resumen

Hemoglobin (Hb) Sabine is an unstable Hb variant that causes hemolytic anemia in heterozygous state, with inclusion bodies in the red blood cells (RBC). This hemoglobin is the result of a point mutation at codon 91(CTG)(CCG) of the beta-globin gene. We report, for the first time in South America, the identification of Hb Sabine in a nine-month-old female baby, referred to our laboratory bearing a severe hemolytic anemia. We emphasize the need for the correct characterization of this unstable hemoglobin mainly for therapeutic purposes and for genetic counseling.
Palabras clave: Abnormal Hemoglobin (Hb) , Hb Sabine , Unstable Hemoglobin
 
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info:eu-repo/semantics/openAccess Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Creative Commons Attribution-NonCommercial-ShareAlike 2.5 Unported (CC BY-NC-SA 2.5)
Identificadores
URI: http://hdl.handle.net/11336/15389
DOI: http://dx.doi.org/10.9734/IBRR/2015/18559
URL: http://www.sciencedomain.org/abstract/9551
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Articulos(IFISE)
Articulos de INST.DE FISIOLOGIA EXPERIMENTAL (I)
Citación
Perez, Susana; Bragós, Irma; Raviola, Mariana; Pratti, Arianna; Detarsio, Germán; et al.; Severe Hemolytic Anemia due to De novo Hemoglobin Sabine in an argentinian newborn: first case in South America; SCIENCEDOMAIN international; International Blood Research & Reviews; 3; 4; -1-2015; 166-170
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