Thalassemia and related hemoglobinopathies

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39 Scopus citations


Hemoglobinopathies are the most common single gene disorders in man. There are several hundred of these disorders though the thalassemias - alpha and beta and the sickling disorders make up the vast majority. Recent advances in the understanding of the hemoglobin structure and the genetics of its synthesis has contributed significantly to the understanding of these diseases. Disorders include those with reduced globin synthesis, abnormal globin chains and failure to switch globin chain synthesis at the appropriate age. This review focuses on the clinical features, diagnosis and management strategies of the alpha and beta thalassemias, the sickling disorders and touches on a few rarer hemoglobinopathies. It also emphasizes prevention strategies and chronic transfusion safety in countries like India where there are limited resources.

Original languageEnglish
Pages (from-to)319-324
Number of pages6
JournalIndian Journal of Pediatrics
Issue number4
StatePublished - Apr 2005
Externally publishedYes


  • Hemoglobinopathies
  • Management
  • Prevention
  • Sickle cell disease
  • Thalassemias


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