Introduction and Aim: Beta-thalassemia is a serious inherited genetic disorder and an increasing health burden globally. Beta -thalassemia is caused by genetic globin abnormalities within the hemoglobin beta (HBB) gene. This study aimed to characterize the HBB gene mutations in beta -thalassemia among southern Iraqi patients. Materials and Methods: The study included 30 beta -thalassemia patients referred to the Thi-Qar Center for Genetic Diseases, Iraq and 15 control samples from a random group of apparently healthy individuals. Genomic DNA was isolated from blood sample collected from each individual. The DNA was amplified for specific regions of the HBB gene and the amplified products sequenced. The sequences generated were analysed for mutations using sequence analysis tools. Results: Molecular analysis revealed several mutations in the HBB gene including translocation, deletion and substitution mutations in the population tested positive for the beta -thalassemia trait. Conclusion: Thalassemia major is a serious concern in southern Iraq and therefore this study emphasizes a need for complete mutation profiling of the beta -globin gene as a strategy for screening of carriers within the population. Such examinations could be useful in pre-marital genetic counseling and for undertaking prevention and treatment measures.
Background :Thalassemia is an autosomal
disease of the haemoglobin. Two types of
thalassemia are recognized: thalassemia major
and thalassemia intermedia.
The most serious cardiac complication in
thalassemia major is due to multiple blood
transfusions rather than the disease itself, which
is due to iron overload.
Cardiomyopathy is the most common cardiac
defect that occurs with iron overload. Pricarditis,
congestive heart failure and arrhythmias are due
to hemosidrosis and chronic aneamia.
Aim of the study: to demonstrate the prevalence
and types of electrocardiographic changes among
thalassemic patients with aged over ten years old.
Repeated blood transfusion in beta thalassemia major patients may lead to peroxidative tissue injury by secondary iron overload. In the present study, 100 patients(50 male+50 female) with beta thalassemia major patients with age (5-20) years and 60 healthy control were included during their attendance at Abin Al_Baladi hospital in Baghdad. Malondialdehyde ,Superoxide Dismutase and Vitamin E, were measured by using kits.The results showed A highly significant (p<0.01)increase in the levels of Malondialdehyde and Superoxide Dismutase, whereas, significant p(<0.01)decrease in the levels of vitamin-E, This suggest that oxidative stress and reduced antioxidant defense mechanism play an important role in pathogenesis of beta thalassemia
... Show MoreBackground: Beta thalassemia is a typically autosomal recessive form of severe anemia which is caused by an imbalance of two types of protein (alpha and beta) subunits of hemoglobin. Oxidative stress imbalance is the equilibrium between pro-oxidant\antioxidant statuses in cellular system, which results in damaging the cells. Antioxidant is a chemical that delays the start or slows the rate of lipid oxidation reaction and it play a very important role in the body defense system against reactive oxygen species. The aims of this study were to recorded the oro-facial manifestations in beta thalassemic patients and assess the oxidative stress marker malondialdehyde in serum and salivs and their role in the pathogenesis of beta thalassemia and ev
... Show MoreMycobacterium tuberculosis resistance to rifampicin is mainly mediated through mutations in the rpoB gene. The effects of rpoB mutations are relieved by secondary mutations in rpoA or rpoC genes. This study aims to identify mutations in rpoB, rpoA, and rpoC genes of Mycobacterium tuberculosis isolates and clarify their contribution to rifampicin resistance. Seventy isolates were identified by acid-fast bacilli smear, Genexpert assay, and growth on Lowenstein Jensen medium. Drug susceptibility, testing was performed by the proportional method. DNA extraction, PCR, and sequencing were accomplished for the entire rpoA, rpoB, and
... Show MoreInterleukin-1 β (IL-1 β) is considered to be one of the most important mediators in the pathogenesis of inflammatory diseases, particularly in neurodegenerative diseases such as multiple sclerosis (MS). MS is a chronic inflammatory disease characterized with demyelination in central nervous system (CNS). There was believe that single nucleotide polymorphisms (SNPs) in IL-1β gene can alter the structure and function of the IL-1β and consequently may have play role in MS disease. In this this study the IL-1β gene polymorphism (rs16944, rs1143634) and their association with MS in Iraqi patients were investigated. Two SNPs including IL-1β-511 (rs16944) in promoter and IL-1B+3962 (rs1143634) in encoding region, were studied using Polyme
... Show MoreLabile plasma iron and tissue iron overload are major complications of thalassemia disease that increase mortality rate. The iron that is exceeding the capacity of transferrin and ferritin is the leading cause of cell oxidation of many organs such as liver, heart, endocrine systems, etc. This study is designed to investigate the status of liver, thyroid gland and the growth hormone in beta thalassemia patients. In a cross-sectional study, 65 samples of beta thalassemia major were taken who were on a regular chelation therapy and blood transfusion and were to be compared with reference values. The results of the study estimated that 98.46% of the cases had high serum ferritin level, 12.3% high ALT, 27.7% high AST, 86.15% high ALP
... Show MoreOral squamous cell carcinoma (OSCC) is the most common malignant neoplasm of the oral mucosa. Human papillomavirus (HPV) virus cause a broad scope of diseases from benign to invasive tumors, types 16 and 18 classified as carcinogenic to humans. This study aimed to provide the first molecular characterization of HPV types in Iraq. Thirty-five unstimulated whole saliva samples were collected from histopathologically confirmed patients with oral cancer were enrolled in this study. Genomic DNA was extracted from exfoliating cells to amplify HPV-DNA using HPV-L1 gene sequence primers by polymerase chain reaction method (PCR), the viral genotyping was performed using direct sequencing method. HPV genotypes identified were deposited in Gen
... Show MoreOral squamous cell carcinoma (OSCC) is the most common malignant neoplasm of the oral mucosa. Human papillomavirus (HPV) virus cause a broad scope of diseases from benign to invasive tumors, types 16 and 18 classified as carcinogenic to humans. This study aimed to provide the first molecular characterization of HPV types in Iraq. Thirty-five unstimulated whole saliva samples were collected from histopathologically confirmed patients with oral cancer were enrolled in this study. Genomic DNA was extracted from exfoliating cells to amplify HPV-DNA using HPV-L1 gene sequence primers by polymerase chain reaction method (PCR), the viral genotyping was performed using direct sequencing method. HPV genotypes identified were deposited in Gen
... Show MoreThe external signals are used as elicitors that can modify the levels of secondary metabolites production and trigger the biotechnological enforcements to improve plant production. In this study, sodium chloride NaCl was used as a stimulating factor for the production of beta-carboline alkaloids, harmine and harmaline, in Peganum harmala. The in vitro induced callus of P. harmalain was used as a source for alkaloid production in the stimulating experiments with sodium chloride. The results illustrated that 2 mg.l-1 of NaCl increased the fresh and dry weight of callus with an average of 944.30 and 72.0 mg, respectively. In a comparative analysis through Gas Chromatography (GC)
... Show MoreThe locus of enterocyte effacement LEE-encoded regulator (Ler( is a global regulator of multiple virulence genes expression in the Enteropathogenic Escherichia coli (EPEC), including those encoding the type III secretion pathway and adhesion proteins such as intimin. Ler is central to the process of the formation of the attaching and effacing (AE) lesions. This study aimed to perform the molecular detection of Ler gene in EPEC, since there is no related previous study in Iraq. Two hundred and fifty stool specimens from children under two years of age for both sexes were collected from some Iraqi hospitals. All isolates were diagnosed according to morphological characteristics and biochemical tests. The results showed th
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