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Mild α-Thalassemia Caused by a Mosaic α-Globin Gene Mutation.
- Source :
-
Hemoglobin . Mar2021, Vol. 45 Issue 2, p140-141. 2p. - Publication Year :
- 2021
-
Abstract
- We describe a new α-globin chain variant in a Chinese subject. This novel variant, with a Val→Met substitution at codon 93 of the α-globin chain, has been named Hb Qingcheng (HBA1: c.280G>A) for where the proband was born. A woman with somatic mosaicism for Hb Qingcheng presented with the phenotype of mild α-thalassemia (α-thal). [ABSTRACT FROM AUTHOR]
- Subjects :
- *GENETIC mutation
*PHENOTYPES
*MOSAICISM
Subjects
Details
- Language :
- English
- ISSN :
- 03630269
- Volume :
- 45
- Issue :
- 2
- Database :
- Academic Search Index
- Journal :
- Hemoglobin
- Publication Type :
- Academic Journal
- Accession number :
- 151284213
- Full Text :
- https://doi.org/10.1080/03630269.2021.1904975