Molecular basis of a high Hb A2/Hb Fβ-thalassemia trait: a retrospective analysis, genotype-phenotype interaction, diagnostic implication, and identification of a novel interaction with α-globin gene triplication
Background β0-thalassemia deletion removing 5´β-globin promoter usually presents phenotype with high hemoglobin (Hb) A2 and Hb F levels. We report the molecular characteristics and phenotype-genotype correlation in a large cohort of the β0-thalassemia with 3.4 kb deletion. Methods A total of 148 sub...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
PeerJ Inc.
2023-05-01
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| Series: | PeerJ |
| Subjects: | |
| Online Access: | https://peerj.com/articles/15308.pdf |