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Thalassemia Reports is published by MDPI from Volume 12 Issue 1 (2022). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.

Thalass. Rep., Volume 8, Issue 2 (June 2018) – 2 articles

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Article
Investigation of Some Endogenous Antimicrobial Peptides in Thalassemia
by Arif Mustafa Efendiyev, Gulnara Ibrahim Azizova and Arzu Ramiz Dadashova
Thalass. Rep. 2018, 8(2), 7744; https://doi.org/10.4081/thal.2018.7744 - 30 Dec 2018
Cited by 1 | Viewed by 857
Abstract
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 [...] Read more.
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. Full article
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Article
β Globin Mutations in Turkish, Northern Iraqi and Albanian Patients with β Thalassemia Major
by Veysel Sabri Hancer, Tunc Fisgin, Murat Buyukdogan, Ceyhun Bozkurt and Sotiraq Lako
Thalass. Rep. 2018, 8(2), 7286; https://doi.org/10.4081/thal.2018.7286 - 5 Jun 2018
Cited by 3 | Viewed by 921
Abstract
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 [...] Read more.
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 > A mutation was the most frequent allele in the Turkish and Albanian patients. In Northern Iraqi patients IVSI-1 G > A was is the most frequent. There are two mutations are firstly reported for Albania [c.*111 A > G 3’ UTR (rs63751128) and c.113 G > 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. Full article
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