Homozygosity for the AATAAA > AATA– – Polyadenylation Site Mutation on the α2-Globin Gene Causing Transfusion-Dependent Hb H Disease in an Iranian Patient: A Case Report

Abstract

We describe a case of Hb H disease associated with homozygosity for a two nucleotide deletion in the polyadenylation signal of the α2-globin gene (HBA2: c.*93_*94delAA). The patient, a 27-year-old son of a consanguineous couple, needs regular blood transfusions every 6 months.

• α-Thalassemia (α-thal)
• Hb H disease
• polyadenylation (polyA) site mutations

Acknowledgements

We are grateful to all our colleagues at the Molecular Department of the Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran, for valuable technical assistance and also appreciate the cooperation of all the patients who took part in this study.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.