1.
Hemoglobin
; 40(5): 359-360, 2016 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27821013
RESUMO
We describe the clinical presentation and laboratory findings of a Malay man with ß-thalassemia intermedia (ß-TI), secondary to homozygosity for a polyadenylation (polyA) signal mutation (AATAAA > AATAGA) (HBB: c.*112A > G) on the ß-globin gene, and give a brief review of the literature. This is the first report of a homozygous case of this polyA mutation, and highlights the importance of molecular analysis of the globin genes in the diagnosis of thalassemia.