Hb S (HBB: c.20A>T) and α- and β-Thalassemia Coinheritance in Iranian Patients

Abstract

Hb S (HBB: c.20A>T) and α- and/or β-thalassemia (α- and/or β-thal) coinheritance is a common genetic disorder in regions with a high prevalence of thalassemia and sickle cell disease. The clinical manifestations of this coinheritance vary from mild to severe complications. Iran is a country with a high incidence of thalassemia and sickle cell disease. This study aimed to evaluate the coinheritance of sickle cell disease with α- and/or β-thal in Iranian patients. In this cross-sectional study from 2018–2019, a total of 47 participants with the Hb S abnormality, who were referred to the Zafar Thalassemia Clinic (Tehran, Iran), were selected as a study group. Molecular analysis for the evaluation of α and β gene mutations was performed in all participants. Hb SS, Hb S/β-thal and Hb S/Hb D-Punjab (also known as Hb D-Los Angeles, Hb D-Chicago, Hb D-North Carolina, Hb D-Portugal and Hb Oak Ridge) (HBB: c.364G>C) were detected in 21 (44.7%), 23 (48.9%) and three (6.4%) patients, respectively. α Gene mutations were also detected in five patients with Hb S/β-thal, four patients with sickle cell disease and one patient with Hb S/Hb D-Punjab. In the current study, –α^3.7/αα with β gene abnormalities was the most common genotype. Our study showed that the coinheritance of sickle cell disease with α- and β-thal is common and evaluation of these disorders, especially in pre marriage screening is important for diagnosis and management strategies.

Keywords:

• α-Thalassemia (α-thal)
• β-thalassemia (β-thal
• )
• coinheritance
• Hb S

Correction Statement

This article has been republished with minor changes. These changes do not impact the academic content of the article.

Acknowledgments

We would like to express our appreciation for the support from study participants, and the Zafar Thalassemia Clinic (Tehran, Iran) for assisting in this project.

Disclosure statement

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