Article
Hb Lulu Island (alpha 2 beta 2 107[G9]Gly-->Asp)-beta zero- thalassemia (codon 15; TGG-->TAG), a form of thalassemia intermedia.
American journal of hematology - 1 Sept 1995
Gray G R, Manson H E, Gu L H, Leonova JYe, Huisman T H
Abstract excerpt
Hb Lulu Island [beta 107(G9)Gly-->Asp] was discovered in an East Indian female who carried a common beta zero-thalassemia allele, i.e., codon 15, TGG-->TAG (is a stop codon) in trans. Both abnormalities were detected through sequencing of the amplified beta-globin genes and were confirmed by hybridization with 32P-labeled probes. Hb Lulu Island is mildly unstable with a borderline decrease in oxygen affinity; its...
Topics
- Adult
- Base Sequence
- Codon
- Female
- Globins
- Hemoglobins, Abnormal
- Heterozygote
- Humans
- Molecular Sequence Data
- Mutation
- beta-Thalassemia
