Hb Évora [α2-35 (B16), Ser→Pro], a novel hemoglobin variant associated with an α-thalassemia phenotype
We report a novel mutation in the α2-globin gene, codon 35 (T→C), detected in two unrelated Portuguese families. This mutation gives rise to a previously undescribed hemoglobin (Hb) variant, which we named Hb Évora. This variant seems to be responsible for the α-thalassemia phenotype present in its...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Ferrata Storti Foundation
2007-02-01
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| Series: | Haematologica |
| Online Access: | https://haematologica.org/article/view/4334 |