الفهرس 
INTRODUCTIONOnly 14 pages are availabe for public view
 |  | from | 150 |  |  |
| | | from | 150 | | |
Abstract
Study of serum visfatin level in children with β-Thalassemia
β-Thalassemia is a heterogenous disorder caused by mutations that reduce or abolish the synthesis of the β-globin chain. Recently, it has been reported that 1.5% of the world’s population are β-thalassemia carriers, that is, at least 80 to 90 million individuals, with an estimated 60 000 new carriers born each year. More than 200 β-thalassemia mutations have now been characterized worldwide; however, relatively small number of common β-thalassemia mutations can be found for each high-risk population. For example, in the Mediterranean region, where β-thalassemia is endemic, four mutations (namely IVSI-110, IVSI-6, IVSI-1, and IVSII-1) account for more than 75% of all cases.
The prevalence of β-thalassemia is increasing, and this is especially of concern in developing countries, as it increases the burden of the healthcare delivery system 4; therefore, the need to implement a thalassemia prevention program in these countries is paramount 5. In the last decades, several programs, aimed at controlling the birth rate of thalassemia newborns by screening and prenatal diagnosis of populations with a high risk of β-thalassemia, have been implemented successfully.
As screening, will continue to be the cornerstone of the strategies aimed at β-thalassemia control, attempts to develop effective and economic techniques for thalassemia screening have become very important, especially in countries that have populations with a high percentage of such diseases. Cascade testing is more practical than general population screening in a country with limited health facilities where consanguineous marriages are practiced. In addition, the need of extensive testing within families with index cases is important to identify the carriers of beta-thalassemia to reduce disease occurrence through awareness and genetic counseling.
The various clinical phenotypes in β-thalassemia have led to the study of genetic factors that could modify the manifestations of these diseases 8. Although more than 180 causative mutations have been reported for β-thalassemia, the spectrum of mutations and their frequencies in most populations consist of a limited number of common mutations and a slightly large number of rare mutations. It was found that in countries bordering the Mediterranean basin, the major mutations of β-globin are IVSI-110, IVSI-6, IVSI-1, codon 39, and codon 37. Studies on the Egyptian population have confirmed the heterogenous nature of thalassemia in Egypt and its synchronous pattern with that of the Mediterranean’s.
Adipocytokines are considered important players in the aetiopathogenesis of numerous metabolic, vascular and inflammatory disorders.
Among these cytokines, much attention has been paid to adiponectin, which has significant effects on the inflammatory process Adiponectin attenuates inflammation, oxidative stress, and cytokine production. Visfatin is a member of the visfatin-like molecule family of cysteine-rich secretory 12-kDa proteins. Some studies have shown the causative association between visfatin and systemic inflammation, especially in the vascular endothelium.
Thus, aim of the current study was to be investigated the role of visfatin in the different types of Beta-thalassemia patients and determine any possible correlations with disease severity.
Therefore, the current study was conducted on seventy Beta thalassemia patients (major intermedia) diagnosed by both clinical and laboratory criteria and Twenty healthy volunteer children (control group). All studied subjects were selected from the Hematology and Oncology pediatric department, Menoufia university, Egypt from the period of February 2016 to February 2017. Clinical and laboratory data of the studied groups were tabulated and statistically analyzed.