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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2014
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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 |
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author | Byatnal, Amit Byatnal, Aditi A. Parvathi Devi, M. K. Badriramkrishna, B. |
author_facet | Byatnal, Amit Byatnal, Aditi A. Parvathi Devi, M. K. Badriramkrishna, B. |
author_sort | Byatnal, Amit |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-4121935 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-41219352014-08-05 β-Thalassemia hijacking ineffective erythropoietin and iron overload: Two case reports and a review of literature Byatnal, Amit Byatnal, Aditi A. Parvathi Devi, M. K. Badriramkrishna, B. J Nat Sci Biol Med Case Reports 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. Medknow Publications & Media Pvt Ltd 2014 /pmc/articles/PMC4121935/ /pubmed/25097435 http://dx.doi.org/10.4103/0976-9668.136245 Text en Copyright: © Journal of Natural Science, Biology and Medicine http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Reports Byatnal, Amit Byatnal, Aditi A. Parvathi Devi, M. K. Badriramkrishna, B. β-Thalassemia hijacking ineffective erythropoietin and iron overload: Two case reports and a review of literature |
title | β-Thalassemia hijacking ineffective erythropoietin and iron overload: Two case reports and a review of literature |
title_full | β-Thalassemia hijacking ineffective erythropoietin and iron overload: Two case reports and a review of literature |
title_fullStr | β-Thalassemia hijacking ineffective erythropoietin and iron overload: Two case reports and a review of literature |
title_full_unstemmed | β-Thalassemia hijacking ineffective erythropoietin and iron overload: Two case reports and a review of literature |
title_short | β-Thalassemia hijacking ineffective erythropoietin and iron overload: Two case reports and a review of literature |
title_sort | β-thalassemia hijacking ineffective erythropoietin and iron overload: two case reports and a review of literature |
topic | Case Reports |
url | 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 |
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