Article
Siriraj I Gγ(Aγδβ)0-thalassaemia causing severe thalassaemia intermedia in compound heterozygous state with IVS1-1(G→T) mutation.
The Malaysian journal of pathology - 1 Apr 2021
Wong Y Y, Alauddin H, Raja Sabudin R Z A, Ithnin A, Jalil N, Abdul Latiff Z, Loh C K, Alias H, Othman A
Abstract excerpt
The Siriraj I Gγ(Aγδβ)0-thalassaemia is a novel mutation involving a 118kb deletion of the β-globin gene cluster. It was first reported in 2012 in two unrelated families from the southern part of Thailand. The carriers in the heterozygous state are clinically asymptomatic. Nonetheless, its complex interaction with other β-thalassaemia could give rise to different clinical phenotypes, ranging from mild...
Topics
- Aged
- Child
- Heterozygote
- Humans
- Male
- Mutation
- alpha-Thalassemia
- beta-Globins
- beta-Thalassemia