Document Details

Document Type : Thesis 
Document Title :
SCREENING OF HBB GENE IN BETA-THALASSEMIA PATIENTS WHO DID NOT HAVE A MUTATION
فحص جين بيتا جلوبين في مرضى البيتا ثالاسيميا الذين ليس لديهم طفرة
 
Subject : Faculty of Applied Medical Sciences 
Document Language : Arabic 
Abstract : Beta-thalassemia is one of the most common inherited disorders worldwide. It results from the decreased synthesis or absence of the beta-globin chains, which is comprised of two alpha globin and two beta globin chains (α2β2). The common cause of beta- thalassemia is a mutation in human beta-globin gene (HBB) which is located on the short arm of Ch11p15.5. This study aimed to identify the mutations in beta-thalassemia patients with undetermined HBB mutations. In addition, it was designed to improve the genetic testing of beta- thalassemia patients who did not have a mutation in HBB gene by using RNA sample following high-throughput DNA sequencing. Six patients with transfusion-dependent beta-thalassemia disease were included within this study. Screening the mutations was done by Sanger Sequencing and the expression levels of HBB gene was determined by Real-Time PCR, after the RNA was extracted from peripheral blood and converted to cDNA. A total of three beta-thalassemia mutations were identified in this study. Two mutations were common, and one mutation was rare and have been previously reported in Saudi Arabia. Of the six patients, two were homozygous for a beta-thalassemia mutation, while one was compound heterozygotes and the other three patients had no mutation in the sequence of HBB gene. The common identified mutations were FSC 8/9 (+G), and nonsense codon 40 (C>T). Furthermore, identified cryptic splice site (intron variant) (HBB:c.316-14T>G), which have been previously reported in Saudi Arabia. Screening of beta-thalassemia mutations that used RNA samples followed by Sanger Sequencing could be useful for genetic diagnosis in high-risk families and improve the genetic testing. 
Supervisor : Dr. Aisha Elaimi 
Thesis Type : Master Thesis 
Publishing Year : 1440 AH
2018 AD 
Added Date : Tuesday, October 2, 2018 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
رشا عبدالعزيز اللهيبيAlluhaybi, Rasha AbdulazizResearcherMaster 

Files

File NameTypeDescription
 43741.pdf pdf 

Back To Researches Page