β-Thalassemia: Genotypes and Phenotypes

  • Hassan T
  • Badr M
  • El Safy U
  • et al.
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Abstract

Abstract β-Thalassemias are extremely heterogeneous at the molecular level. More than 200 disease-causing mutations have been identified. The majority of mutations are single nucleotide substitutions. Rarely, β-thalassemia results from gross gene deletion. The degree of globin chain imbalance is determined by the nature of the mutation of the β- gene. β0 refers to the complete absence of production of β-globin on the affected allele. β+ refers to alleles with some residual production of β-globin (around 10%). In β++ , the reduction in β-globin production is very mild. The broad spectrum of β-thalassemia alleles can produce a wide spectrum of different β-thalassemia phenotypes. In this chapter, we review the molecular basis of the marked heterogeneity of the thalassemia syndromes or in other words the genotype-phenotype relationship in β-thalassemia

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APA

Hassan, T., Badr, M., El Safy, U., Hesham, M., Sherief, L., & Zakaria, M. (2016). β-Thalassemia: Genotypes and Phenotypes. In Epidemiology of Communicable and Non-Communicable Diseases - Attributes of Lifestyle and Nature on Humankind. InTech. https://doi.org/10.5772/64644

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