Non-deletional alpha thalassaemia: a review
Abstract Background Defective synthesis of the α-globin chain due to mutations in the alpha-globin genes and/or its regulatory elements leads to alpha thalassaemia syndrome. Complete deletion of the 4 alpha-globin genes results in the most severe phenotype known as haemoglobin Bart’s, which leads to...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2020-06-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13023-020-01429-1 |