Thalassemia Reports 2019-02-13T11:25:36+01:00 Paola Granata Open Journal Systems <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> β globin mutations in Turkish, Northern Iraqi and Albanian patients with β thalassemia major 2018-11-29T17:15:59+01:00 Veysel Sabri Hancer Tunc Fisgin Murat Buyukdogan Ceyhun Bozkurt Sotiraq Lako 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. 2018-06-06T14:22:59+02:00 ##submission.copyrightStatement## Investigation of some endogenous antimicrobial peptides in thalassemia 2019-02-13T11:25:36+01:00 Arif Mustafa Efendiyev Gulnara Ibrahim Azizova Arzu Ramiz Dadashova <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> 2018-12-31T00:00:00+01:00 ##submission.copyrightStatement##