Indan Journal of Medical Research Indan Journal of Medical Research Indan Journal of Medical Research Indan Journal of Medical Research
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REVIEW ARTICLE
Year : 2011  |  Volume : 134  |  Issue : 4  |  Page : 522-531

Hb E/beta-thalassaemia: A common & clinically diverse disorder


1 Pediatrics Medicine & Public Health Sciences, University of Toronto & Toronto General Hospital Research Institute, Toronto, Canada
2 Children's Hospital Oakland Research Institute, Oakland, CA, USA
3 Hematology/Oncology, Children's Hospital & Research Center, Oakland, CA, USA

Correspondence Address:
Nancy F Olivieri
Toronto General Hospital, Eaton Wing North 10-226; 200 Elizabeth Street Toronto
Canada
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Source of Support: None, Conflict of Interest: None


PMID: 22089616

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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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