Thalassemia Reports <p><strong>Thalassemia Reports</strong> is the premier peer-reviewed international medical journal devoted entirely to the study, diagnosis, and treatment of thalassemia. The journal covers the pathophysiology, diagnosis, classification, and treatment of thalassemia and related disorders for physicians and medical scientists. The primary intent of the journal will be to publish clinically relevant information that will directly improve the care of patients with thalassemia. Basic science studies of interest to those treating disorders will also be considered for publication when relevant. A special section of the journal is dedicated to Case Reports: we would like to invite clinicians and researchers to send us their reports.</p> en-US <p><strong>PAGEPress</strong> has chosen to apply the&nbsp;<a href="" target="_blank" rel="noopener"><strong>Creative Commons Attribution NonCommercial 4.0 International License</strong></a>&nbsp;(CC BY-NC 4.0) to all manuscripts to be published.<br><br> An Open Access Publication is one that meets the following two conditions:</p> <ol> <li>the author(s) and copyright holder(s) grant(s) to all users a free, irrevocable, worldwide, perpetual right of access to, and a license to copy, use, distribute, transmit and display the work publicly and to make and distribute derivative works, in any digital medium for any responsible purpose, subject to proper attribution of authorship, as well as the right to make small numbers of printed copies for their personal use.</li> <li>a complete version of the work and all supplemental materials, including a copy of the permission as stated above, in a suitable standard electronic format is deposited immediately upon initial publication in at least one online repository that is supported by an academic institution, scholarly society, government agency, or other well-established organization that seeks to enable open access, unrestricted distribution, interoperability, and long-term archiving.</li> </ol> <p>Authors who publish with this journal agree to the following terms:</p> <ol> <li>Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.</li> <li>Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.</li> <li>Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.</li> </ol> (Paola Granata) (Tiziano Taccini) Wed, 06 Jun 2018 00:00:00 +0200 OJS 60 β globin mutations in Turkish, Northern Iraqi and Albanian patients with β thalassemia major The mutation detection of β thalassemia is absolutely necessary for molecular diagnosis, as well as any genetic epidemiological study. The β globin gene has 3 exons and 2 introns, involved in β-thalassemic pathogenesis. The study aim of the study is to characterize the spectrum of β globin gene mutations in 136 Turkish, Northern Iraqi and Albanian pediatric β thalassemia major patients. After genomic DNA extraction from venous blood and amplification of the target DNA regions with PCR, genotyping was achieved by Sanger based DNA sequencing. The IVSI-110 G&gt;A mutation was the most frequent allele in the Turkish and Albanian patients. In Northern Iraqi patients IVSI-1 G&gt;A was is the most frequent. There are two mutations are firstly reported for Albania [c.*111 A&gt;G 3’ UTR (rs63751128) and c.113 G&gt;A (p.Trp38Ter, p.W38*) (rs35887507)] with this study. These findings may be of value for genetic counseling, premarital diagnosis, prenatal diagnosis and prevention programs. Veysel Sabri Hancer, Tunc Fisgin, Murat Buyukdogan, Ceyhun Bozkurt, Sotiraq Lako ##submission.copyrightStatement## Wed, 06 Jun 2018 14:22:59 +0200 Investigation of some endogenous antimicrobial peptides in thalassemia <p>The aim of this work was a comparative study of the amount of antimicrobial peptides - human neutrophil peptides - defensins (HNP), hepcidin, bactericidal/permeability-increasing protein (BPI), and endotoxin in β-thalassemia. Blood samples of 135 patients with thalassemia were investigated. All patients were divided into 3 groups. The first group included patients with heterozygous form (n=45). The second group consisted of patients with homozygous form before splenectomy (n=45). The third group included patients with homozygous form after splenectomy (n=45). The age of patients varied from 2 to 18 years. Biochemical [unconjugated and conjugated bilirubin, alkaline phosphatase, hemoglobin, ferritin, aspartate transaminase (AST), alanine transaminase (ALT), mean corpuscular volume (MCV)] and immune (IgA, IgM, IgG, phagocytic activity) parameters were defined. Obtained results suggest that increased levels of endogenous antimicrobial peptides are associated with the development of the infectious process and reflect the dynamics of changes in biochemical parameters and immune status.</p> Arif Mustafa Efendiyev, Gulnara Ibrahim Azizova, Arzu Ramiz Dadashova ##submission.copyrightStatement## Mon, 31 Dec 2018 00:00:00 +0100