Preferred Language
Articles
/
ihenU48BVTCNdQwCGmzL
Molecular characterization of HBB gene mutations in beta-thalassemia patients of Southern Iraq
...Show More Authors

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.

Scopus Crossref
View Publication Preview PDF
Quick Preview PDF
Publication Date
Mon Jul 19 2021
Journal Name
Challenges In Disease And Health Research Vol. 10
Molecular Analysis of CYP21A2 Gene Mutations among Congenital Adrenal Hyperplasia Patients in Iraq
...Show More Authors

View Publication
Crossref (1)
Crossref
Publication Date
Sat Aug 30 2025
Journal Name
Iraqi Journal Of Science
Seroprevalence and Molecular Detection of Human Parvovirus B19 in Beta Thalassemia Major Patients
...Show More Authors

Beta thalassemia major (BTM) is a genetic disorder that has been linked to an increased risk of contracting blood-borne viral infections, primarily due to the frequent blood transfusions required to manage the condition. One such virus that can be transmitted through blood is the Human Parvovirus B19 (B19V). The aim of this study was to investigate the frequency and molecular detection of B19V. This study included 60 blood donors as controls and 120 BTM patients. B19V was identified by serology, which measured B19-IgG and B19-IgM antibodies. Nested Polymerase Chain Reaction (nPCR) was employed to target the VP1/VP2 structural proteins. The results showed that B19V seropositivity represents 27.5% (33 out of 120) in BTM patients, and

... Show More
View Publication
Scopus Crossref
Publication Date
Tue May 11 2021
Journal Name
Egyptian Journal Of Medical Human Genetics
Molecular analysis of CFTR gene mutations among Iraqi cystic fibrosis patients
...Show More Authors
Abstract<sec> <title>Background

Cystic fibrosis (CF) is an autosomal recessive multisystem disease that results from mutation(s) of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. More than 2100 mutations and polymorphisms have been reported in this gene so far. Incidence and genotyping of CF are under-identified in Iraq. This study aims to determine the types and frequencies of certain CFTR mutations among a sample of Iraqi CF patients. Two groups of patients were included: 31 clinically confirmed CF patients in addition to 47 clinically suspected patients of CF. All confirmed pa

... Show More
View Publication
Scopus (5)
Crossref (4)
Scopus Clarivate Crossref
Publication Date
Thu Sep 29 2016
Journal Name
Enzyme Research
Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia
...Show More Authors

Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing CYP21A2 gene mutations was so far not reported in Iraq. This work aims to analyze the spectrum and frequency of CYP21A2 mutations among Iraqi CAH patients. Sixty-two children were recruited from the Pediatric Endocrine Consultation Clinic, Children Welfare Teaching Hospital, Baghdad, Iraq, from September 2014 till June 2015. Their ages ranged between one day and 15 years. They presented with salt wasting, simple virilization, or pseudoprecocious puberty. Cytogenetic study was performed for cases with ambiguous genitalia. Molecular analysis of

... Show More
View Publication
Scopus (10)
Scopus
Publication Date
Tue Apr 01 2025
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Serological and Molecular Detection of Prevalence of Human Parvovirus (B19) in Beta Thalassemia Major Patients in Baghdad
...Show More Authors

Background: Beta thalassemia major (β-TM) is an inheritable condition with many complications, especially in children. The blood-borne viral infection was proposed as a risk factor due to the recurrent blood transfusion regimen (hemotherapy) as human parvovirus B19 (B19V). Objective: This study investigated the B19V seroprevalence, DNA presence, B19V viral load, and B19V genotypes in β-TM patients and blood donors. Methods: This is a cross-sectional study incorporating 180 subjects, segregated into three distinct groups each of 60 patients, namely control, β-TM, and β-TM infected with Hepatitis C Virus (HCV).  For the B19V prevalence in the studied group, the ELISA technique and real-time PCR were used. The genotyping was follo

... Show More
View Publication Preview PDF
Scopus Crossref
Publication Date
Fri Jul 05 2013
Journal Name
Hemoglobin
The Spectrum of β-Thalassemia Mutations in Baghdad, Central Iraq
...Show More Authors

View Publication
Scopus (19)
Crossref (21)
Scopus Clarivate Crossref
Publication Date
Tue Oct 22 2024
Journal Name
Hemoglobin
Prevalence and Molecular Characterization of β-Thalassemia in Kirkuk Province of Northern Iraq
...Show More Authors

View Publication
Scopus (2)
Crossref (2)
Scopus Clarivate Crossref
Publication Date
Sun Jun 01 2025
Journal Name
Medical Journal Of Babylon
Detection of Human Parvovirus (B19) in Beta Thalassemia Major Patients
...Show More Authors
Abstract<sec> <title>Background:

Beta-thalassemia major (β-TM) is inheritable condition with many complications especially in children. The blood-borne viral infection was proposed as a risk factor due to recurrent blood transfusion regimen (hemotherapy).

Objectives:

This study aimed to investigate Human parvovirus B19 (PVB19) prevalence in β-TM patients by serological and molecular means.

Materials and Methods:

This is a cross-section

... Show More
View Publication
Scopus Crossref
Publication Date
Sat Dec 21 2019
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Clinical Complications of Beta-Thalassemia Major
...Show More Authors

Beata thalassemia

Beta thalassemia syndrome by reduction or absence of B-globin chain synthesis. Without iron chelation therapy (ICT) the regular blood transfusion would increase the iron stores to several times. Endocrine glands are vulnerable to iron overload causing endocrine dysfunction.  Iron deposition within the parathyroid gland causes hypoparathyroidism particularly after ten years of age. Pancreatic islets are very susceptible to oxidative damage due to iron overload; their high divalent metal expression makes them highly susceptible to iron-catalyzing oxidative stress. The pathogenicity of osteopathy in  is multifactorial comprising environmental (diet and lifestyle), iatrogenic (medicines), genetic and acqui

... Show More
View Publication Preview PDF
Scopus (7)
Crossref (5)
Scopus Crossref
Publication Date
Wed Jan 30 2013
Journal Name
Al-kindy College Medical Journal
Electrocardiographic changes among beta-thalassemic major patients in ibn al-baladi thalassemia center-Baghdad
...Show More Authors

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.

View Publication Preview PDF