Document Details

Document Type : Thesis 
Document Title :
Diversity of HBB haplotypes Among Hemoglobinopathies Patients
مدى تنوع وتفاوت الهابلوتايب لجين البيتا جلوبين في مرضى خضاب الدم (الهيموغلوبين)
 
Subject : Faculty of Applied Medical Sciences 
Document Language : Arabic 
Abstract : Hemoglobinopathies are commonly found worldwide and characterized by a wide spectrum of clinical severity and complications. The wide spectrum of clinical symptoms of these disorders in some regions may be caused by the diversity of β-globin gene (HBB) haplotypes which reflect racial and ethnic origin of the affected individuals. This study aimed to investigate HBB haplotype among hemoglobinopathies patients in Jeddah City. 143 samples were recruited from King Abdulaziz Universty Hospital (KAUH), 77 samples analyzed as β-thalassemia, 40 samples analyzed as sickle cell anemia (SCA) and 26 samples as control to normal persons. Determination of HBB haplotypes were performed using polymerase chain reaction amplification of fragments containing four polymorphic restriction sites (PCR-RFLP) around and within HBB. The digested fragments were visualized with ethidium bromide staining after electrophoresis. The study show that haplotype 1 and Benin haplotype are the most prevalent haplotypes with 38% (54 samples) and 33% (48 samples), respectively. The Benin haplotype comprises 80% )32 samples ) of the SCA patients while 52% ( 41samples ) of β-thalassemia samples were found to be haplotype1. Mean of hemoglobin (Hb) concentration was the the highest in Benin haplotype (8.4 g/dl) while the least in Haplotype 3 (5.3g/dl). In other hand, our results showed a strong association between HBB haplotypes and SCA group P=0.000002 while there was no significant with β- thalassemia group P=0.375. Our study show that the Benin haplotype and haplotypes 1 are the highest percentages were found in hemoglobinopathy patients. Additionally it suggests that identified haplotype could be originated from African populations due to close African contient from Western Region of Saudi Arabia or may be was connected together millions years ago. Future study will be aimed to determine of Hb F in each haplotype as well as identify the type of mutation which repeats more in each haplotype in β-thalassemia patients. 
Supervisor : Dr. Raed Flemban 
Thesis Type : Master Thesis 
Publishing Year : 1440 AH
2019 AD 
Added Date : Wednesday, July 31, 2019 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
علي دخيل الله دخيل الله السميريAlsamiri, Ali Dakhil AllahResearcherMaster 

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