الفهرس 
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Abstract
β-thalassemia syndromes are a group of hereditary blood disorders characterized by reduced or absent β globin chain synthesis, resulting in reduced Hb in red blood cells (RBC), decreased RBC production and anemia.
Beta-Thalassemia is a significant public health problem in Egypt, where over one million newborns are expected to be affected with this disorder, and it is considered the most common genetically determined chronic hemolytic anemia (85.1 %) in our locality. A high frequency of carriers has been reported in Egypt, ranging from 4 to 10 %. This is due to high rate of consanguineous marriage, which helps to accumulate deleterious genes in Egyptian families
Chronic hemolytic anemia is associated with chronic hypoxia, generation of reactive oxygen species, and dysregulation of the hepcidin/iron homeostasis in favor of increased iron absorption. Both anemia and iron overload can further worsen ineffective erythropoiesis and complicate the pathophysiological picture. Though higher standards of care in Beta-thalassemia patients including blood transfusions combined with adequate chelation therapy have led to enhance years of survival but stimulant the rate of its related complication such as cardiovascular disease (CVD) and arterial and venous thrombo-embolic events increased also. The underlying mechanisms of Beta-thalassemia related complications were not determined clearly.
Hepcidin binds to ferroportin and reduces cellular iron export by 2 mechanisms: the hepcidin-induced conformational change in ferroportin initiates its ubiquitination and degradation and the binding of hepcidin to ferroportin occludes iron transport.
EREF was identified in 2014 in mice where the transcript was found in bone marrow, encoded by the mouse Fam132b gene. The homologous gene in humans is FAM132B and the sequence is conserved in other species. The protein is synthesized by erythroblasts and secreted.. The action of ERFE in suppressing hepcidin production by nonhepatocyte cell populations is also of interest in light of recent evidence that hepcidin locally produced by cardiomyocytes regulates the iron status of these cells in an autocrine or paracrine fashion. So the aim of this work was to determine the level of EREF and its relation to iron parameters in pediatric patients with β-thalassemia major.
The present study was conducted on 38 patients with documented β- thassemia major.In addition, 30 apparently healthy, age and sex.All subjects were selected from the hematology pediatric department ,Menoufia university,Egypt from the period of December 2016 and April 2017.Clinical and laboratory data of the studied groups were tabulated and statistically analyzed.
In our study, we found that weight (kg) ,height (cm) were significantly lower in β- thalassemia major patients than control group.
In current study Hb and TIBC were significantly lower in β- thalassemia patient than control group and Iron , Transferrin and Ferritin were significantly higher in β-thalassemia major than control group.and we found that is no significant difference between β thalassemia patients from controls regarding erythroferrone level
In our study we found positive correlation between EREF level and Iron ,Hb ,TIBC, Transferrin saturation and Ferritin .But this relation was highly significant between EREF and both Iron and transferrin saturation.
In our study, there was a significant increase in cholesterol , T.G and LDL in cases respectively and significant decreases in HDL in cases than control group .
In the light of the present study findings, it can be concluded that
There is no significant difference between β thalassemia patients from controls regarding erythroferrone level.
There is significant correlation between erythroferrone and both Iron level and transferrin saturation while no correlation between erythroferrone ; and Hb, TIBC and ferritin in thalassemic children
Based on the findings of this study, the following recommendations are proposed.
Good follow-up is important for thalassemic patients specially for iron overload.
Monitoring of liver function, renal functions, and lipid profile were important.
Extent the study to include larger number of patients of different age groups.and The simultaneous estimation of serum iron status parameters, hepcidin and erythroferrone concentrations for all patients.
The development of validated accurate assay for human serum ERFE levels estimation and the standardization of reference range in healthy individuals of different age group.