A Patient with β-Thalassemia Intermedia Secondary to Homozygosity for a Polyadenylation Signal Mutation (AATAAA > AATAGA) (HBB: C.*112A > G) on the β-Globin Gene. (2nd September 2016)

• Record Type: Journal Article
• Authors: Lim, Yen-Chian; Tan, Karen M.L.; Chong, Samuel S.; Rajendran, Joseph; Sampath, Venkatasreekanth
• Is Part Of: Hemoglobin. Volume 40:Number 5(2016)
• Page Start: 359
• Page End: 360
• Publication Date: 2016-09-02
• Subjects: β-Globin gene -- paravertebral -- polyadenylation (polyA) signal mutation (AATAAA > AATAGA) -- thalassemia; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2016.1237960
• Languages: English
• ISSNs: 0363-0269

Abstract

Abstract: We describe the clinical presentation and laboratory findings of a Malay man with β-thalassemia intermedia (β-TI), secondary to homozygosity for a polyadenylation (polyA) signal mutation (AATA A A > AATA G A) ( HBB : c.*112A > G) on the β-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.