Study on the Role of Polymorphisms of the SOX-6 and MYB Genes and Fetal Hemoglobin Levels in Sicilian Patients with β-Thalassemia and Sickle Cell Disease

Abstract

The hemoglobinopathies, as β-thalassemia (β-thal) and sickle cell disease, are the most common hereditary hemolytic anemias. The increase of fetal hemoglobin (Hb F) levels can ameliorate the symptoms of hemoglobinopathies. There are several transcription factors such as MYB and SOX-6, which are involved in the regulation of Hb F. There are not enough studies investigating the association between single nucleotide polymorphisms (SNPs) of the SOX-6 and MYB genes and the variation of Hb F levels in patients affected by sickle cell disease and β-thal. We therefore decided to analyze the role of four missense variants of MYB and SOX-6 genes in the regulation of Hb F levels. In order to do so, we examinated 30 Sicilian patients affected by sickle cell disease and β-thal, to understand if these variants could also have an influence in our populations. Comparing two groups of patients with low and high levels of Hb F, we found no significant differences in the genetic distribution and allelic frequency of MYB and SOX-6 gene polymorphisms. We also created and compared a ‘high producer’ and ‘low producer’ genotype with different genes achieving the same result of no significant difference. Our results may be due either to the fact that the association between these genes and the regulation of Hb F levels are influenced by environmental history and population genetics, or to the small number of samples being analyzed.

Keywords:

• β-Thalassemia (β-thal)
• Hb F
• Polymorphisms
• sickle cell disease

Acknowledgements

Florinda Listì performed the laboratory work for this study, wrote the manuscript and analyzed the data; Serena Sclafani and Veronica Agrigento performed the laboratory work for this study; Rita Barone was responsible for the clinical diagnoses, the therapy and collected the clinical data; Aurelio Maggio gave scientific support to the implementation of research; Elena D’Alcamo planned and coordinated the study and revised the article.

Disclosure statement

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

Additional information

Funding

This study was partially supported by Fondazione Franco e Piera Cutino, Azienda Ospedali Riuniti Villa Sofia-Cervello, Palermo, Italia.