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

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

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

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.

Acute myeloid leukemia is a malignant disease results from mutation in a multipotent haemopoietic stemcell. The study aimed to investigate NPM1 and FLT3-ITD mutations in Iraqi patients with AML and correlateresults with other clinical and laboratory findings. Fifty-eight AML patients, admitted to Baghdad TeachingHospital from October 2019 till March 2020 in addition to 25 normal controls, were included in the study.A detailed history, laboratory investigations including FLT3-ITD and NPM1 mutations were collected fromand analyzed. FLT3-ITD was detected in 17.24% of patients, NPM1 mutation in 10.34%. Most of thepatients are presented with pallor. FLT3-ITD mutation had a higher blast cell count (74%) while NPM1mutation had higher WBCs

Background: 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

Mycobacterium 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