Article
Homozygous Mutation on the β-Globin Polyadenylation Signal in a Tunisian Patient with β-Thalassemia Intermedia and Coinheritance of Gilbert's Syndrome.
Hemoglobin - 1 Mar 2017
Haddad Faten, Trabelsi Nawel, Chaouch Leila, Darragi Imen, Oueslati Meriem, Boudriga Imen, Chaouachi Dorra, El-Borgi Wijdene, Hafsia Raouf, Abbes Salem, Ouragini Houyem
Abstract excerpt
We report here the clinical, hematological and molecular data in a 50-year-old patient with β-thalassemia intermedia (β-TI) caused by a homozygous β+ mutation on the β-globin gene polyadenylation (polyA) signal (AATAAA>AAAAAA). β Haplotype analysis was accomplished by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Haplotype and framework analysis showed that this mutation is...
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