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Hb E/beta-thalassaemia: a common & clinically diverse disorder
Haemoglobin E-beta thalassaemia (Hb E/β-thalassaemia) is the genotype responsible for approximately one-half of all severe beta-thalassaemia worldwide. The disorder is characterized by marked clinical variability, ranging from a mild and asymptomatic anaemia to a life-threatening disorder requiring...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2011
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3237252/ https://www.ncbi.nlm.nih.gov/pubmed/22089616 |
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author | Olivieri, Nancy F. Pakbaz, Zahra Vichinsky, Elliott |
author_facet | Olivieri, Nancy F. Pakbaz, Zahra Vichinsky, Elliott |
author_sort | Olivieri, Nancy F. |
collection | PubMed |
description | Haemoglobin E-beta thalassaemia (Hb E/β-thalassaemia) is the genotype responsible for approximately one-half of all severe beta-thalassaemia worldwide. The disorder is characterized by marked clinical variability, ranging from a mild and asymptomatic anaemia to a life-threatening disorder requiring transfusions from infancy. The phenotypic variability of Hb E/β-thalassaemia and the paucity of long-term clinical data, present challenges in providing definitive recommendations for the optimal management of patients. Genetic factors influencing the severity of this disorder include the type of beta-thalassaemia mutation, the co-inheritance of alpha-thalassaemia, and polymorphisms associated with increased production of foetal haemoglobin. Other factors, including a variable increase in serum erythropoietin in response to anaemia, previous or ongoing infection with malaria, previous splenectomy and other environmental influences, may be involved. The remarkable variation, and the instability, of the clinical phenotype of Hb E beta-thalassaemia suggests that careful tailoring of treatment is required for each patient, and that therapeutic approaches should be re-assessed over-time. |
format | Online Article Text |
id | pubmed-3237252 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-32372522011-12-15 Hb E/beta-thalassaemia: a common & clinically diverse disorder Olivieri, Nancy F. Pakbaz, Zahra Vichinsky, Elliott Indian J Med Res Review Article Haemoglobin E-beta thalassaemia (Hb E/β-thalassaemia) is the genotype responsible for approximately one-half of all severe beta-thalassaemia worldwide. The disorder is characterized by marked clinical variability, ranging from a mild and asymptomatic anaemia to a life-threatening disorder requiring transfusions from infancy. The phenotypic variability of Hb E/β-thalassaemia and the paucity of long-term clinical data, present challenges in providing definitive recommendations for the optimal management of patients. Genetic factors influencing the severity of this disorder include the type of beta-thalassaemia mutation, the co-inheritance of alpha-thalassaemia, and polymorphisms associated with increased production of foetal haemoglobin. Other factors, including a variable increase in serum erythropoietin in response to anaemia, previous or ongoing infection with malaria, previous splenectomy and other environmental influences, may be involved. The remarkable variation, and the instability, of the clinical phenotype of Hb E beta-thalassaemia suggests that careful tailoring of treatment is required for each patient, and that therapeutic approaches should be re-assessed over-time. Medknow Publications & Media Pvt Ltd 2011-10 /pmc/articles/PMC3237252/ /pubmed/22089616 Text en Copyright: © The Indian Journal of Medical Research 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 | Review Article Olivieri, Nancy F. Pakbaz, Zahra Vichinsky, Elliott Hb E/beta-thalassaemia: a common & clinically diverse disorder |
title | Hb E/beta-thalassaemia: a common & clinically diverse disorder |
title_full | Hb E/beta-thalassaemia: a common & clinically diverse disorder |
title_fullStr | Hb E/beta-thalassaemia: a common & clinically diverse disorder |
title_full_unstemmed | Hb E/beta-thalassaemia: a common & clinically diverse disorder |
title_short | Hb E/beta-thalassaemia: a common & clinically diverse disorder |
title_sort | hb e/beta-thalassaemia: a common & clinically diverse disorder |
topic | Review Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3237252/ https://www.ncbi.nlm.nih.gov/pubmed/22089616 |
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