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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...

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Autores principales: Olivieri, Nancy F., Pakbaz, Zahra, Vichinsky, Elliott
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2011
Materias:
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.
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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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