Thalassemia Reports最新文献

{"title":"Investigation of some endogenous antimicrobial peptides in thalassemia","authors":"A. M. Efendiyev, G. Azizova, A. Dadashova","doi":"10.4081/THAL.2018.7744","DOIUrl":"https://doi.org/10.4081/THAL.2018.7744","url":null,"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 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.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"1 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2018-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2018.7744","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42300755","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"β globin mutations in Turkish, Northern Iraqi and Albanian patients with β thalassemia major","authors":"V. Hançer, T. Fışgın, Murat Büyükdoğan, C. Bozkurt, S. Lako","doi":"10.4081/THAL.2018.7286","DOIUrl":"https://doi.org/10.4081/THAL.2018.7286","url":null,"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 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.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2018-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2018.7286","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42852636","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"National policies in ensuring access to quality and safety of drugs: A challenge or a prerequisite","authors":"M. Dehshal, M. Namini","doi":"10.4081/THAL.2018.7483","DOIUrl":"https://doi.org/10.4081/THAL.2018.7483","url":null,"abstract":"Access to the essential medicines is an important challenge in the developing countries. To have access to the quality and affordable medicines, the pharmaceutical decision makers try different strategies. The production of generic and copy medicines is one of the strategies that if adopted based on the recognized standards and norms can be effective in raising the health status in the developing countries. However, the regulation enfeeblement has somewhat impaired the quality of generic and copy medicines and harmed the health life of consumers. Here we aim to reflect over the role of different beneficiaries including international organizations, governments, pharmaceutical companies, and NGOs in ensuring the feasible and sustainable access of citizens to the essential medicines. We also aim to highlight the importance of the patient status in the enhancement of the medical delivery.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"10 6","pages":""},"PeriodicalIF":0.3,"publicationDate":"2018-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2018.7483","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41300542","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optimal blood transfusion therapy in haemoglobinopathies","authors":"J. Porter","doi":"10.4081/thal.2018.7477","DOIUrl":"https://doi.org/10.4081/thal.2018.7477","url":null,"abstract":"","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2018-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/thal.2018.7477","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45217795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnosis of haemoglobinopathies : New scientific advances","authors":"C. Harteveld","doi":"10.4081/THAL.2018.7473","DOIUrl":"https://doi.org/10.4081/THAL.2018.7473","url":null,"abstract":"The molecular defects underlying haemoglobinopathies are both deletions and point mutations in the alpha- or beta-globin genes or gene-clusters. To detect point mutations causing alpha- or beta-thalassaemia, direct sequencing is the method of choice to detect the widest spectrum of molecular defects. The most established approach in DNA diagnostics to screen for the most common deletion defects causing alpha-thalassaemia or beta-thalassaemia is gap- PCR, Multiplex Ligation-dependent Probe Amplification (MLPA) and Sanger Sequencing technology to detect breakpoint sequences of previously uncharacterized deletions/duplications. We demonstrate the recent advances in the determination of duplications and deletions causing alpha- or beta-thalassemia, using Next Generation Sequencing, array Comparative Genome Hybridization and Target Locus Amplification. We present three cases in which the use of advanced technologies allow the diagnosis of unexpected disease genotypes.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"8 1","pages":"7-8"},"PeriodicalIF":0.3,"publicationDate":"2018-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2018.7473","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42319745","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patient care: Unmet needs globally","authors":"M. Angastiniotis, A. Eleftheriou","doi":"10.4081/thal.2018.7485","DOIUrl":"https://doi.org/10.4081/thal.2018.7485","url":null,"abstract":"Literature demonstrates that long survival and a good quality of life are achieved where the patients’ needs for holistic care are recognised and the appropriate services are offered. The once fatal diseases of childhood have become chronic conditions of adult life. [8, 9, 10]. TIF’s mission is to promote and assist in the implementation of national programmes for the treatment of thalassaemia and other haemoglobin disorders, wherever the patients may be residing, driven by the vision of equal access to quality healthcare for every patient [1]. The purpose of this paper is to report on preliminary results of a global TIF survey that sought to examine the inequalities, which patients experience in their management by services and professionals across the world, and identify some of the reasons contributing to such inequalities. Emphasis in this investigation is given to the services that are offered from the patients’ point of view. This work derives from, and is part of TIF’s ongoing relationship with its member associations, individual patients, as well as health professional and health authorities.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2018-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/thal.2018.7485","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44927929","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Migration: The aftershocks to the provision of healthcare","authors":"S. Lobitz","doi":"10.4081/THAL.2018.7471","DOIUrl":"https://doi.org/10.4081/THAL.2018.7471","url":null,"abstract":"Migration is the “movement of people to a new area or country in order to find work or better living conditions” (Oxford dictionary). The term “migration” summarizes forced, reluctant and voluntary migration. Voluntary migration is a comparatively constant event. But reluctant and, in particular, forced migration have been subject to substantial change during the last years. At the end of 2016, more than 17.2 million refugees (+ 5.3 million Palestinians) were on the run outside their home countries. 55% of them fled from Syria (5.5 million), Afghanistan (2.5 million) and South Sudan (1.4 million), respectively. The top hosting countries were not, in fact, the Southern and Western European or North American, but some of the poorest countries in the world. With the refugees from countries where disorders of haemoglobin are very prevalent, the number of patients in the host countries significantly increased within a very short period of time. The extraordinary circumstances required rapid rethinking and adaption and, therefore, did not only pose a big challenge but, in some countries, also a big chance to improve care for patients suffering from hemoglobinopathies. Although there are certainly several trouble spots in the world, the Middle East crisis was and still is currently the most prominent one. There is a significant prevalence of thalassemia and sickle cell disease among the Syrian and Iraqi population and since the chronically ill were presumably those who left their home countries first, there was a dramatic increase in the prevalence of thalassaemia and sickle cell disease in the host countries. Many patients fled to Western and Northern European countries where hemoglobinopathies were very rare and where the healthcare systems were unable to cope with this sudden increase in patient numbers and complications. For example, disease characteristics were much more pronounced than doctors were used to. Complications occurred that physicians only knew from textbooks. In addition, virtually all families needed significant help in psychosocial matters and many refugees were severely traumatized.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2018-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2018.7471","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41488954","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"New challenges in diagnosis of haemoglobinopathies: Migration of populations","authors":"J. Old, A. Timbs, J. McCarthy, A. Gallienne, M. Proven, M. Rugless, H. Lopez, J. Eglinton, D. Dziedzic, Matthew Beardsall, Mohamed S.M. Khalila, S. Henderson","doi":"10.4081/THAL.2018.7474","DOIUrl":"https://doi.org/10.4081/THAL.2018.7474","url":null,"abstract":"","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2018-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2018.7474","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48742867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Iron overload and chelation therapy in hemoglobinopathies","authors":"R. Bou-Fakhredin, J. Elias, A. Taher","doi":"10.4081/thal.2018.7478","DOIUrl":"https://doi.org/10.4081/thal.2018.7478","url":null,"abstract":"","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2018-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/thal.2018.7478","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47579199","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"TIF conference presentation in detail","authors":"Barrister Abid Waheed Shaikh","doi":"10.4081/THAL.2018.7493","DOIUrl":"https://doi.org/10.4081/THAL.2018.7493","url":null,"abstract":"The factors determining the health behaviours may be seen in various contexts: physical, socio-economic, cultural and political. So the utilization of a health care system, public or private, formal or non-formal, may depend on socio-demographic factors, social structures, level of education, cultural beliefs and practices, gender discrimination, status of women, economic and political systems environmental conditions, and the disease pattern and health care system itself. Policy makers need to understand the drivers of health seeking behaviour of the population in an increasingly pluralistic health care system. Also a more concerted effort is required for designing behavioural health promotion campaigns through inter-sectoral collaboration focusing more on disadvantaged segments of the population. Thalassaemia is the most prevalent genetic blood disorder in Pakistan. It is estimated that there are 8-10 million Thalassaemia Minor cases in the country with a prevalence of 5-6%. It is also estimated that about 100,000 patients suffering from Thalassaemia Major exist in Pakistan and every year this number is increasing by about 6,000. Pakistan is witnessing this large increase in thalassaemic patients due to a lack of proper coordinated, nationwide efforts to contain the inherited form of anaemia, and general public awareness...","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2018-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2018.7493","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42400380","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}