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.
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 (AATAAA > AATAGA) (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.
a Department of Haematology , Tan Tock Seng Hospital , Singapore.
Yen-Chian
YC
Lim
b Molecular Diagnosis Centre, Department of Laboratory Medicine , National University Hospital , Singapore.
Karen M L
KM
Tan
b Molecular Diagnosis Centre, Department of Laboratory Medicine , National University Hospital , Singapore.|c Department of Paediatrics, Yong Loo Lin School of Medicine , National University Singapore , Singapore.
Samuel S
SS
Chong
a Department of Haematology , Tan Tock Seng Hospital , Singapore.
Joseph
J
Rajendran
a Department of Haematology , Tan Tock Seng Hospital , Singapore.
Venkatasreekanth
V
Sampath
D000328:Adult; D006720:Homozygote; D006801:Humans; D008297:Male; D025202:Molecular Diagnostic Techniques; D009154:Mutation; D026723:Polyadenylation / Q000235:genetics*; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
D055544:beta-Globins
paravertebral; polyadenylation (polyA) signal mutation (AATAAA > AATAGA); thalassemia; β-Globin gene