Jain, Sachin ; Edison, Eunice S. ; Mathews, Vikram ; Shaji, R. V. (2012) A novel δ-globin gene mutation (HBD: c.323G>A) masking the diagnosis of β-thalassemia: a first report from India International Journal of Hematology, 95 (5). pp. 570-572. ISSN 0925-5710
Full text not available from this repository.
Official URL: https://link.springer.com/article/10.1007/s12185-0...
Related URL: http://dx.doi.org/10.1007/s12185-012-1032-y
Abstract
An elevated HbA2 (α2δ2) level (>3.5%) is a well-established diagnostic test for heterozygous β-thalassemia. Mutations in the δ-globin gene can cause decreased expression of HbA2, resulting in heterozygous β-thalassemia with normal levels of HbA2. In this report, we describe a novel missense mutation in δ-globin (HBD: c.323G>A, Gly > Asp) in an Indian family with heterozygous β-thalassemia with normal HbA2 levels.
| Item Type: | Article |
|---|---|
| Source: | Copyright of this article belongs to Springer Verlag. |
| Keywords: | Novel Mutation; δ-Globin; β-Thalassemia; India |
| ID Code: | 113893 |
| Deposited On: | 07 Jun 2018 11:29 |
| Last Modified: | 08 Jun 2018 07:47 |
Repository Staff Only: item control page
