eISSN: 1896-9151
ISSN: 1734-1922
Archives of Medical Science
Current issue Archive Manuscripts accepted About the journal Special issues Editorial board Abstracting and indexing Subscription Contact Instructions for authors
SCImago Journal & Country Rank
Share:
Share:
more
 
 
abstract:
Clinical research

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

Sumayh A. Aldakeel
,
Neda Z. Ghanem
,
Amani M. Al-Amodi
,
Ahoud Khalid Osman
,
Lubna Ibrahim Al Asoom
,
Nazish Rafique Ahmed
,
Noor B. Almandil
,
Mohammed Shakil Akhtar
,
Sayed AbdulAzeez
,
J. Francis Borgio

Online publish date: 2019/05/05
View full text
Get citation
ENW
EndNote
BIB
JabRef, Mendeley
RIS
Papers, Reference Manager, RefWorks, Zotero
AMA
APA
Chicago
Harvard
MLA
Vancouver
 
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 b-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 b-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  deletion.

Conclusions
This current study updated the HBB gene variations with newly identified variants of HBB gene and co-inheritance with a-globin deletions. The identified -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:

HBB gene, novel variants, hemoglobin, hematological disorders, DNA sequencing

FEATURED PRODUCTS
Quick links
© 2019 Termedia Sp. z o.o. All rights reserved.
Developed by Bentus.
PayU - płatności internetowe