Genetics of Thalassemia
β-Thalassemia is a common genetic disorder caused by mutations in β-globin gene that results in reduced β-globin production. There are more than 200 different mutations that have been reported till date affecting the diverse levels of β-globin gene expression and causing β-thalassemia. Nucleotide su...
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| Main Author: | |
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| Format: | Book Chapter |
| Language: | English |
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IntechOpen
2022
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| Online Access: | https://www.intechopen.com/chapters/84254 |
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| Summary: | β-Thalassemia is a common genetic disorder caused by mutations in β-globin gene that results in reduced β-globin production. There are more than 200 different mutations that have been reported till date affecting the diverse levels of β-globin gene expression and causing β-thalassemia. Nucleotide substitutions and frameshift insertion-/deletion-type mutations interfere with the molecular mechanism like transcription of the β-globin gene, splicing process and translation of mRNA of β-globin gene, thus resulting in either absence or reduction of synthesis of β-globin chains. Molecular analysis is a must for all thalassemia patients. Definitive diagnosis and counseling of these patients will help in better management of disease. |
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| ISBN: | 978-1-80356-731-0 |
| DOI: | 10.5772/intechopen.106748 |