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.
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
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Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing
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 MoreBeta-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).
This study aimed to investigate Human parvovirus B19 (PVB19) prevalence in β-TM patients by serological and molecular means.
This is a cross-section
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 MoreBackground :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.