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. 2019 May 5;16(2):453-459.
doi: 10.5114/aoms.2019.84825. eCollection 2020.

Identification of seven novel variants in the β-globin gene in transfusion-dependent and normal patients

Sumayh A Aldakeel  1 , Neda Z Ghanem  1 , Amani M Al-Amodi  1 , Ahoud Khalid Osman  1 , Lubna Ibrahim Al Asoom  2 , Nazish Rafique Ahmed  2 , Noor B Almandil  3 , Mohammed Shakil Akhtar  4 , Sayed Abdul Azeez  1 , J Francis Borgio  1
Affiliations

Identification of seven novel variants in the β-globin gene in transfusion-dependent and normal patients

Sumayh A Aldakeel et al. Arch Med Sci. .

Abstract

Introduction: Abnormality in HBB results in an inherited recessive blood disorder, which can be caused by variants at the transcriptional or translational level affecting the stability and the production of the HBB chain. The severity of the disease relies on the variant's characteristics. This study aimed to identify the common β-globin HBB variants in the population of the Eastern Province, which has the highest prevalence of blood diseases in Saudi Arabia.

Material and methods: Direct sequence of β-globin HBB gene, and alpha-globin HBA1 and HBA2 genes was performed on a total of 545 blood samples (transfusion-dependent: 215, 106 men and 109 women; normal healthy subjects: 330, 197 men and 133 women) collected from Saudi Arabian participants in the Eastern region.

Results: A total of 36 variants in HBB gene were revealed with 11 variants that have been reported for the first time in Saudi Arabia, including 7 novel variants that have been identified for the first time in HBB gene. The novel variants consisted of two exonic (HBB:c.252C>T; HBB:c.281G>T) and five intronic variants (c.316-183_316-168del; c.315+241T>A; c.315+376T>C; c.316-114C>G; c.315+208T>G) at HBB gene. The novel exonic variants and three (c.316-183_316-168del; c.315+241T>A; c.315+376T>C) intronic variants were co-inherited with α deletion.

Conclusions: This current study updated the HBB gene variations with newly identified variants of HBB gene and co-inheritance with α-globin deletions. The identified β-globin mutations will strengthen the genetic reference that could aid in characterizing mutations that are associated with phenotype of thalassemia in a specific region.

Keywords: DNA sequencing; HBB gene; hematological disorders; hemoglobin; novel variants.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Schematic representation of HBB gene structure and novel identified variant locations. The position of the mutations is indicated below the gene. Novel mutations detected in subjects with transfusion-dependent are in red, mutations detected in normal subjects are in green, and the mutation identified in both subjects is in gray
See this image and copyright information in PMC

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