Dominant Beta Thalassemia: A Very Rare Cause of Thalassemia in a Mediterranean Country

Abstract

Beta thalassemia is one of the monogenic disorders characterized by decreased production of β-globin chains and various types of mutations have been reported to cause thalassemia phenotype. On the other hand, rare mutations also affect and diversify the disease spectrum. Herein, we present an anemic patient from Turkey diagnosed with dominant β thalassemia due to a heterozygous mutation in exon 3 of the HBB gene.

Keywords:

• Dominant beta-thalassemia
• hyper unstable hemoglobins
• mutation in exon 3

Authors contribution

The authors confirm their contribution to the paper as follows: study conception and design: ÇC, SU; data collection: ÇC, SU; analysis and interpretation of results: ÇC, SU; draft manuscript preparation: ÇC, SU. All authors reviewed the results and approved the final version of the manuscript.

Ethical approval

We obtained informed consent from the patient’s family.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Additional information

Funding

The authors declare the study received no funding.