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β-Thalassemia hijacking ineffective erythropoietin and iron overload: Two case reports and a review of literature

Thalassemia is a rare, complex disease, representing a group of disorders of hemoglobin synthesis that are characterized by reduced synthesis of either the alpha-globin or β-globin chains of the hemoglobin molecule. Defective synthesis of β-globin resulting from a variety of molecular defects causes...

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Detalles Bibliográficos
Autores principales: Byatnal, Amit, Byatnal, Aditi A., Parvathi Devi, M. K., Badriramkrishna, B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4121935/
https://www.ncbi.nlm.nih.gov/pubmed/25097435
http://dx.doi.org/10.4103/0976-9668.136245
Descripción
Sumario:Thalassemia is a rare, complex disease, representing a group of disorders of hemoglobin synthesis that are characterized by reduced synthesis of either the alpha-globin or β-globin chains of the hemoglobin molecule. Defective synthesis of β-globin resulting from a variety of molecular defects causes β-thalassemia. Thalassemia is an autosomal recessive disorder, which requires prompt diagnosis and an appropriate treatment. Thorough clinical, radiographic and laboratory assessment helps in diagnosing thalassemia and any other hematological disorder. Here, two cases of β-thalassemia showing distinct features are presented and the importance of detailed work-up of the cases has been highlighted.