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...
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2016-11-09.
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| LEADER | 01846 am a22002533u 4500 | ||
|---|---|---|---|
| 001 | intechopen_books_5287 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Hassan, Tamer |e author |
| 700 | 1 | 0 | |a Badr, Mohamed |e author |
| 700 | 1 | 0 | |a Safy, Usama El |e author |
| 700 | 1 | 0 | |a Hesham, Mervat |e author |
| 700 | 1 | 0 | |a Sherief, Laila |e author |
| 700 | 1 | 0 | |a Zakaria, Marwa |e author |
| 245 | 0 | 0 | |a β-Thalassemia: Genotypes and Phenotypes |
| 260 | |b IntechOpen, |c 2016-11-09. | ||
| 500 | |a https://mts.intechopen.com/articles/show/title/-thalassemia-genotypes-and-phenotypes | ||
| 520 | |a 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. | ||
| 540 | |a https://creativecommons.org/licenses/by/3.0/ | ||
| 546 | |a en | ||
| 690 | |a Epidemiology of Communicable and Non-Communicable Diseases - Attributes of Lifestyle and Nature on Humankind | ||
| 655 | 7 | |a Chapter, Part Of Book |2 local | |
| 786 | 0 | |n https://www.intechopen.com/books/5287 | |
| 787 | 0 | |n ISBN:978-953-51-2740-6 | |
| 856 | \ | \ | |u https://mts.intechopen.com/articles/show/title/-thalassemia-genotypes-and-phenotypes |z Get Online |