β-Thalassemia: Genotypes and Phenotypes
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 b...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Ebooks |
| Published: |
IntechOpen,
2016-11-09.
|
| Subjects: | |
| Online Access: | Get Online |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Summary: | 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. |
|---|---|
| Item Description: | https://mts.intechopen.com/articles/show/title/-thalassemia-genotypes-and-phenotypes |