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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 4, Issue 3 (December 2014) – 26 articles

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530 KiB  
Brief Report
Are We United Enough to Come Down with Common Charter of Demands: The Health Professionals’ Perspective
by Antonis Kattamis
Thalass. Rep. 2014, 4(3), 4883; https://doi.org/10.4081/thal.2014.4883 - 4 Dec 2014
Viewed by 398
Abstract
Providing optimal care for patients with hemoglobinopathies is common goal for all the health professionals working on the field. The medical community has adopted best practices guidelines to provide similar therapeutic plans. The pre-requisites for an effective health system cover all aspects from [...] Read more.
Providing optimal care for patients with hemoglobinopathies is common goal for all the health professionals working on the field. The medical community has adopted best practices guidelines to provide similar therapeutic plans. The pre-requisites for an effective health system cover all aspects from infrastructure to organization flow, staffing and public interventions. If economic resources are limited, best available option, which will not differ from ‘optimal care’, need to be found. Full article
486 KiB  
Brief Report
Are We Strong Enough to Assert Our Rights in Quality Healthcare?
by Loris Brunetta
Thalass. Rep. 2014, 4(3), 4882; https://doi.org/10.4081/thal.2014.4882 - 4 Dec 2014
Viewed by 405
Abstract
The title of this speech is an important challenge for me, for a patient I mean, to face because it’s not easy to state today if we are really strong enough to assert our rights for a quality healthcare. At first sight, and [...] Read more.
The title of this speech is an important challenge for me, for a patient I mean, to face because it’s not easy to state today if we are really strong enough to assert our rights for a quality healthcare. At first sight, and in an optimistic vision, we could answer to this question YES, we are, but I think we need to explore better the field before to confirm that this is the right answer to the question. The first thing to assess is what we mean with the pronoun WE: the patients and parents’ community represented from TIF? The whole community that plays around thalassemia and hemoglobinopathies, meaning patients and parents and scientists? What else? Full article
483 KiB  
Brief Report
Quality of Life of Patients with Haemoglobinopathies in Periods of Economic Austerity
by Maria Tsironi
Thalass. Rep. 2014, 4(3), 4881; https://doi.org/10.4081/thal.2014.4881 - 4 Dec 2014
Viewed by 503
Abstract
The concept of quality of life (QoL) encompasses a broad spectrum of meaning that is variously influenced by individual, natural and psychological conditions [...] Full article
485 KiB  
Brief Report
ENERCA: e-Learning Platform
by Patricia Aguilar-Martínez
Thalass. Rep. 2014, 4(3), 4880; https://doi.org/10.4081/thal.2014.4880 - 4 Dec 2014
Viewed by 400
Abstract
ENERCA (the European Network for Rare and Congenital Anemias) is a European Commission funded project since 2002 [...] Full article
482 KiB  
Article
e-ENERCA: Telemedicine Platform for Rare Anaemias
by Béatrice Gulbis, María del Mar Mañú Pereira, Emilio J. Armaza Armaza, Pilar Nicolás and for the ENERCA Working Group
Thalass. Rep. 2014, 4(3), 4879; https://doi.org/10.4081/thal.2014.4879 - 4 Dec 2014
Viewed by 570
Abstract
The creation of a telemedicine, tele-expertise platform opens a new challenge within the European Network for Rare and Congenital Anaemias (ENERCA; www.enerca.org). This is a cornerstone in the field of rare anaemias, in which national expertise is usually scarce and a significant number [...] Read more.
The creation of a telemedicine, tele-expertise platform opens a new challenge within the European Network for Rare and Congenital Anaemias (ENERCA; www.enerca.org). This is a cornerstone in the field of rare anaemias, in which national expertise is usually scarce and a significant number of patients remain undiagnosed. Experts in rare diseases are specially needed of shared knowledge platforms offering the possibility of a faster and more accurate diagnosis and the availability of a better patients’ follow-up. The platform developed by e- ENERCA will be user friendly and intuitive so it will be used by the majority of professionals without requiring a specific formation. The idea of inter professional consultation is to bring medical experts together for collaborative involvement in activities that maximize the benefits and improvement in patient care. Full article
532 KiB  
Article
Recommendations for Centres of Expertise in Rare Anaemias. The ENERCA White Book
by Joan-Lluis Vives Corrons, María del Mar Mañú Pereira, Carlos Romeo-Casabona, Pilar Nicolás, Béatrice Gulbis, Androulla Eleftheriou, Michael Angastiniotis, Patricia Aguilar-Martínez, Paola Bianchi, Richard Van Wijk, Hermann Heimpel, Barbara De la Salle and Andrea Mosca
Thalass. Rep. 2014, 4(3), 4878; https://doi.org/10.4081/thal.2014.4878 - 4 Dec 2014
Cited by 4 | Viewed by 846
Abstract
The Community added value of Centres of Expertise (CoE) and European Reference Networks (ERN) is particularly high for rare diseases (RD) due to the rarity of these conditions, which implies both a small number of patients and scarcity of expertise within a single [...] Read more.
The Community added value of Centres of Expertise (CoE) and European Reference Networks (ERN) is particularly high for rare diseases (RD) due to the rarity of these conditions, which implies both a small number of patients and scarcity of expertise within a single country. Gathering expertise at the European level is therefore, paramount in order to ensure equal access to accurate information, appropriate and timely diagnosis and high quality clinical care and follow up for patients with rare diseases. This applies particularly to rare anaemias due to the high number of different rare diseases that constitute this group. In this context, the European Network for Rare and Congenital Anaemias (ENERCA), co-financed by the European Commission, was created in 2002 with the aim of prevention and management of rare anaemias (RA) and the development and promotion of policies to improve the well-being of European Union citizens. The ENERCA White Book is a position paper, developed as a deliverable of the ENERCA (phase 3) project that intends to contribute to the creation of a ERN in RA (ERN-RA) by preparation of the recommendations and, in particular, the definition of the criteria that CoE, local centres (LC) and their interrelations have to fulfil as healthcare providers. It has been nourished by all the activities that have been performed over the past ten years within the ENERCA framework. The White Book is addressed to authorities in charge of the identifying CoE, as an essential requirement for the official recognition of the ERN, to European and national health authorities, Healthcare centres and health professionals, as well as to all other stakeholders interested in RA. It is also addressed to the patients, as a way to empower their community in this process. One particular characteristic of the White Book is the integration of the three main aspects of a CoE: (a) ethical and legal frameworks to ensure the non-discrimination and non-stigmatisation of rare disease patients across Europe, within their sphere of competencies; (b) clinical and laboratory frameworks for defining technical and quality criteria including scope, general and disease specific elements currently defined as technical and professional standards for the diagnosis, treatment and follow-up of patients with RA; and (c) the expectations patients have of CoE. Conceived as a working tool directed to a broad range of stakeholders, the White book has been designed and structured to be comprehensible even to non-technical and /or non-professional audiences. The reader will find an up-to-date description and epidemiological information on RA as well as the European Union background policies for defining CoE and ERN-RA. A working group was created with experts of different profiles, known as the European Working Group on Rare Anaemias (EGRA). In order to achieve its objectives, the methodology used by EGRA, was characterised by three main principles: Interdisciplinary, European coverage, and evidence-based principles. Work has been developed into four sequential steps: 1. Analysis of the current situation of RA in Europe by healthcare professionals in order to identify the most relevant issues that have to be addressed by a centre in order for it to be recommended as CoE. 2. Preparation of questionnaires to perform surveys on how the relevant issues identified in step 1 can be translated into practical recommendations. 3. Analysis of the questionnaire results by face to face meetings, feedback and consensus evaluation, and 4. Preparation of a report on ENERCA policy recommendations for CoE. This report is presented in a user-friendly format, easy to understand and available through the ENERCA website (www.enerca.org). Several important conclusions can be drawn from the ENERCA White Book, including the importance of laboratories involved in the diagnosis of RA, patient oriented and multidisciplinary care at the CoE, the need for coordination and cooperation within and outside the centre, the provision of information to patients and health professionals and the involvement of public authorities at the national and European levels. Official recognition of this structure and assurance of its long term sustainability will only be achieved if public authorities work hand by hand with both professionals experts in different disciplines and patients. Finally, the ENERCA White book aims to be a practical tool for health authorities of Member States (MS) that are preparing their national directory of formally designated CoE. For this, it is important that MS authorities recognise RA as an important health component to be included within the National Plans or Actions for Rare Diseases. Full article
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Article
The Role of OMICS Research in Understanding Phenotype Variation in Thalassaemia: The THALAMOSS Project
by Roberto Gambari
Thalass. Rep. 2014, 4(3), 4877; https://doi.org/10.4081/thal.2014.4877 - 4 Dec 2014
Cited by 2 | Viewed by 568
Abstract
The β-thalassaemias are a group of severe and rare anaemias with monogenic inheritance, a complex systemic phenotype and several treatment-related complications, caused by more than 300 mutations of the β-globin gene. Novel therapeutic protocols, most of which are based on still experimental treatments, [...] Read more.
The β-thalassaemias are a group of severe and rare anaemias with monogenic inheritance, a complex systemic phenotype and several treatment-related complications, caused by more than 300 mutations of the β-globin gene. Novel therapeutic protocols, most of which are based on still experimental treatments, show great promise but significant variability of success between patients. These strategies include chemical/molecular induction of the endogenous β-like γ-globin gene or the restoration of clinically relevant β-globin levels by gene therapy. A small number of modifiers with significant impact on disease penetrance, severity and efficacy of treatments are known, but most remain elusive. Improvements of existing treatment regimens and optimization and application of novel treatments will critically depend on the characterization of additional disease modifiers and the stratification of patients for customized treatment regimens. This requires extensive analyses based on “OMICS”, an English-language neologism which refer to different but connected fields in molecular biology and biochemistry, such as genomics, transcriptomics, exomics, proteomics, metabolomics. The major objective of OMICS is a collective characterization of pools of biological molecules (gene sequences, transcripts, proteins and protein domains) controlling biological structures, functions and dynamics, including several involved in pathological conditions. One of the most interesting observations of genomics in β-thalassaemias is the association between genomic sequences and high fetal haemoglobin (HbF) levels, in consideration of the fact that high HbF levels are usually associated with milder forms of β-thalassaemia. Related to this issue, is the possibility to predict response to different therapeutic protocols on the basis of genomic analyses. For instance, three major loci (Xmn1-HBG2 single nucleotide polymorphism, HBS1L-MYB intergenic region on chromosome 6q, and BCL11A) contribute to high HbF production. Pharmacogenomic analysis of the effects of hydroxyurea (HU) on HbF production in a collection of β-thalassemia and sickle cell disease (SCD) patients allowed the identification of genomic signatures associated with high HbF. Therefore, it can hypothesized that genomic studies might predict the response of patients to treatments based on hydroxyurea, which is at present the most used HbF inducer in pharmacological therapy of β-thalassaemia. Transcriptomic/proteomic studies allowed to identify the zinc finger transcription factor B-cell lymphoma/leukemia 11A (BCL11A) as the major repressor of HbF expression. The field of research on g-globin gene repressors (including BCL11A) is of top interest, since several approaches can lead to pharmacologically-mediated inhibition of the expression of g-globin gene repressors, leading to gglobin gene activation. Among these strategies, we underline direct targeting of the transcription factors by aptamers or decoy molecules, as well as inhibition of the mRNA coding g-globin gene repressors with shRNAs, antisense molecules, peptide nucleic acids (PNAs) and microRNAs. In this respect, the THALAMOSS FP7 Project (THALAssaemia MOdular Stratification System for personalized therapy of β-thalassemia, www.thalamoss.eu) aims develop a universal sets of markers and techniques for stratification of β-thalassaemia patients into treatment subgroups for (a) onset and frequency of blood transfusions, (b) choice of iron chelation, (c) induction of fetal hemoglobin, (d) prospective efficacy of gene-therapy. The impact of THALAMOSS is the provision of novel biomarkers for distinct treatment subgroups in β-thalassaemia (500–1000 samples from participating medical centres), identified by combined genomics, proteomics, transcriptomics and tissue culture assays, the development of new or improved products for the cell isolation, characterization and treatment of β-thalassaemia patients and the establishment of routine techniques for detection of these markers and stratification of patients into treatment groups. Translation of these activities into the product portfolio and R&D methodology of participating SMEs will be a major boost for them as well as for the field. THALAMOSS tools and technologies will (a) facilitate identification of novel diagnostic tests, drugs and treatments specific to patient subgroups and (b) guide conventional and novel therapeutic approaches for β-thalassaemia, including personalized medical treatments. Full article
539 KiB  
Review
Current Status and Developments in Gene Therapy for Thalassemia and Sickle Cell Disease
by Evangelia Yannaki and Garyfalia Karponi
Thalass. Rep. 2014, 4(3), 4876; https://doi.org/10.4081/thal.2014.4876 - 4 Dec 2014
Viewed by 489
Abstract
β-thalassemias and sickle cell anemia (SCA) are the most common monogenic diseases worldwide for which curative treatments remain a desired goal. Allogeneic hematopoietic stem cell transplantation (allo-HCT), - the only curative treatment currently available for hemoglobinopaties-, has a narrow application window whereas it [...] Read more.
β-thalassemias and sickle cell anemia (SCA) are the most common monogenic diseases worldwide for which curative treatments remain a desired goal. Allogeneic hematopoietic stem cell transplantation (allo-HCT), - the only curative treatment currently available for hemoglobinopaties-, has a narrow application window whereas it incurs several immunological risks. Gene therapy (GT), that is the autologous transplantation of genetically modified hematopoietic stem cells (CD34+), represents a promising new therapeutic strategy which is anticipated to reestablish effective hemoglobin production and render patients transfusion- and drug- independent without the immunological complications that normally accompany allo-HCT. Prior to the application of GT for hemoglobinopathies in the clinic, many years of extensive preclinical research were spent for the optimization of the gene transfer tools and conditions. To date, three GT clinical trials for β-thalassemia and sickle cell disease (SCD) have been conducted or are in progress and 3 cases of transfusion independence in thalassemic β0Ε patients have been reported. In the present review, the prerequisites for successful implementation of GT, the tough pathway of GT for hemoglobinopathies towards the clinic and the knowledge gained from the first clinical trials as well as the remaining questions and challenges, will be discussed. Overall, after decades of research including achievements but pitfalls as well, the path to GT of human patients with hemoglobinopathies is currently open and highly promising... Full article
521 KiB  
Brief Report
Fertility and Pregnancy in Thalassaemia and Sickle Cell Disease. The UK Guidelines
by Bernard Davis
Thalass. Rep. 2014, 4(3), 4874; https://doi.org/10.4081/thal.2014.4874 - 4 Dec 2014
Cited by 2 | Viewed by 501
Abstract
Progressive improvements in the health and survival of patients with thalassaemia and sickle cell disease have increased the reproductive prospects of affected individuals. However, pregnancy in these disorders is associated with significant maternal and fetal risks and expert management is required to ensure [...] Read more.
Progressive improvements in the health and survival of patients with thalassaemia and sickle cell disease have increased the reproductive prospects of affected individuals. However, pregnancy in these disorders is associated with significant maternal and fetal risks and expert management is required to ensure good outcomes. In the United Kingdom, it is recognised that the patchy geographical distribution of these conditions poses challenges for access to specialist care, including specialist obstetric services. Guidelines on the pregnancy management of thalassaemia and sickle cell disease in the UK have been published by the Royal College of Obstetricians and Gynaecologists. These guidelines describe the preconceptual, antenatal, intrapartum and postpartum aspects of care. They highlight the high-risk status of pregnancy in these conditions and emphasise the vital importance of specialist multidisciplinary care to the achievement of favourable maternal and fetal outcomes. The guidelines are a valuable resource to healthcare professionals, especially those working in low prevalence areas. Full article
507 KiB  
Review
Sickle Cell Disease Complications
by Ersi Voskaridou
Thalass. Rep. 2014, 4(3), 4873; https://doi.org/10.4081/thal.2014.4873 - 4 Dec 2014
Cited by 1 | Viewed by 527
Abstract
Sickle cell disease (SCD) is an inherited, lifelong condition. The sickle mutation consists a single nucleotide change (GAT->GTT) in the sixth codon of exon 1 of the β-globin gene coding for the β-globin polypeptide of hemoglobin (Hb) (a2β2). This [...] Read more.
Sickle cell disease (SCD) is an inherited, lifelong condition. The sickle mutation consists a single nucleotide change (GAT->GTT) in the sixth codon of exon 1 of the β-globin gene coding for the β-globin polypeptide of hemoglobin (Hb) (a2β2). This change results in replacement of the wild type glutamic acid residue by a valine residue in β-globin chain and the formation of the sickle Hb (HbS) in homozygotes for this mutation. Heterozygotes live a normal life. In SCD patients, sickle erythrocytes are rigid with decreased deformability and reduced life span resulting in hemolysis, vaso-occlusive disease, vasculopathy and subsequent inflammation and end organ damage. Sickle cell disease affects millions of people worldwide. Today, with proper health care, many SCD patients have a good quality of life (QoL) and are in fairly good health most of the time. These people can live up to their forties or fifties, or longer. Despite the ‘common’ underlying genetic basis and a similar pathophysiology, patients with SCD present a highly variable clinical phenotype due to Single Nucleotide Polymorphisms (SNPs) variability throughout the genome. Patients with SCD are at high risk for developing multisystem acute and chronic complications associated with significant morbidity and mortality. Full article
500 KiB  
Brief Report
Thalassaemia: The Dental Implications of Bisphosphonate Therapy
by Navdeep Kumar
Thalass. Rep. 2014, 4(3), 4872; https://doi.org/10.4081/thal.2014.4872 - 4 Dec 2014
Viewed by 471
Abstract
Bisphosphonates (BP) are commonly used in individuals with thalassaemia to stabilise bone remodelling. However, in recent years, evidence has emerged that bisphosphonate related osteonecrosis of the jaw (BONJ) may occur. Cases of BONJ have recently been confirmed in individuals with thalassaemia. The aim [...] Read more.
Bisphosphonates (BP) are commonly used in individuals with thalassaemia to stabilise bone remodelling. However, in recent years, evidence has emerged that bisphosphonate related osteonecrosis of the jaw (BONJ) may occur. Cases of BONJ have recently been confirmed in individuals with thalassaemia. The aim of the presentation is to detail the prevalence of BONJ, outline the presentation (exposed vs. non-exposed), describe the management strategies that have been proposed, and discuss some risk reduction strategies. Full article
532 KiB  
Review
Review of Endocrine Complications in Adult Patients with β-Thalassaemia Major
by Ploutarchos Tzoulis
Thalass. Rep. 2014, 4(3), 4871; https://doi.org/10.4081/thal.2014.4871 - 4 Dec 2014
Cited by 3 | Viewed by 507
Abstract
Endocrine abnormalities are amongst the most common complications of β-thalassaemia major (TM). This is an overview of endocrinopathies of adult patients with β-thalassaemia major, excluding osteoporosis and fertility issues. This review will focus on emerging evidence in the last 5 years with regards [...] Read more.
Endocrine abnormalities are amongst the most common complications of β-thalassaemia major (TM). This is an overview of endocrinopathies of adult patients with β-thalassaemia major, excluding osteoporosis and fertility issues. This review will focus on emerging evidence in the last 5 years with regards to endocrinopathies in patients with TM. Full article
1868 KiB  
Brief Report
Viral Hepatitis B and C. Cure or Treatment?
by Dimitrios A. Kountouras
Thalass. Rep. 2014, 4(3), 4870; https://doi.org/10.4081/thal.2014.4870 - 4 Dec 2014
Viewed by 414
Abstract
HBV and HCV infections are among the most important global health problems; both represent also the leading cause of cirrhosis and HCC worldwide. HBV treatment cannot be considered cure but effective viral suppression can be achieved and remains the current principal goal of [...] Read more.
HBV and HCV infections are among the most important global health problems; both represent also the leading cause of cirrhosis and HCC worldwide. HBV treatment cannot be considered cure but effective viral suppression can be achieved and remains the current principal goal of therapy. Talking about HCV treatment today equals to talking about total cure of the patient, with treatments of very high SVR rates, shorter if not shortest duration, minimal risk for resistance, pangenotypic and practically with no serious adverse events, no fibrosis or previous treatment status limitations, but also with a very high cost. Full article
520 KiB  
Article
Management of Liver Complications in Haemoglobinopathies
by Pierre Brissot and Olivier Loreal
Thalass. Rep. 2014, 4(3), 4869; https://doi.org/10.4081/thal.2014.4869 - 4 Dec 2014
Viewed by 534
Abstract
Liver complications in haemoglobinopathies (thalassaemia and sickle cell disease) are due to several factors, dominated (beside chronic viral infections, not considered here) by chronic iron overload, biliary obstruction and venous thrombosis. Whereas the latter two factors can cause acute hepatic syndromes, all three [...] Read more.
Liver complications in haemoglobinopathies (thalassaemia and sickle cell disease) are due to several factors, dominated (beside chronic viral infections, not considered here) by chronic iron overload, biliary obstruction and venous thrombosis. Whereas the latter two factors can cause acute hepatic syndromes, all three mechanisms - when becoming chronic- can produce fibrosis and cirrhosis and even, in thalassaemia, hepatocellular carcinoma. These chronic hepatic complications are an indirect consequence of the significant improvement in life expectancy due to the overall amelioration of disease management. The diagnostic approach has benefited from non invasive (biochemical and imaging) approaches which have considerably reduced the indication of liver biopsy. The therapeutic management involves relatively efficient curative medical, endoscopic or surgical methods, but should rest primarily on preventive measures focused on the haematological causative factors but also on hepatic co-morbidities. This chapter will focus on hepatic complications in thalassaemia and sickle cell disease (SCD), without considering the complications related to virus B or C infections which will be described in another chapter. Full article
507 KiB  
Brief Report
The Patient as a Partner in Promoting Healthcare Policies and Research
by Marco Bianchi
Thalass. Rep. 2014, 4(3), 4868; https://doi.org/10.4081/thal.2014.4868 - 4 Dec 2014
Viewed by 361
Abstract
The Patient is a Problem or the Patient has a Problem [...] Full article
501 KiB  
Brief Report
Economic Recession and Health
by Eleni Theocharous
Thalass. Rep. 2014, 4(3), 4867; https://doi.org/10.4081/thal.2014.4867 - 4 Dec 2014
Viewed by 451
Abstract
The economic crisis, which struck in Europe since 2008, has raised concerns about the health of the less privileged, vulnerable and poor people of the continent - the ordinary people of Europe. There is currently sufficient evidence for the negative and, in certain [...] Read more.
The economic crisis, which struck in Europe since 2008, has raised concerns about the health of the less privileged, vulnerable and poor people of the continent - the ordinary people of Europe. There is currently sufficient evidence for the negative and, in certain countries, devastating effects of austerity policies on the financing of health and other services of general interest, essential to promote the proper functioning of our economies and the cohesion of our societies. This evidence proves that health and social services are seriously impaired. Full article
512 KiB  
Brief Report
Milestones in the History of Thalassemia and Sickle Cell Disease
by Dimitris Loukopoulos
Thalass. Rep. 2014, 4(3), 4866; https://doi.org/10.4081/thal.2014.4866 - 4 Dec 2014
Cited by 1 | Viewed by 613
Abstract
The inherited hemoglobin disorders are a challenging topic for many reasons; they are caused by a variety of interesting molecular mechanisms, have a complicated pathophysiology, they constitute a multifaceted medical problem with pain and misery for the patients and unhappiness for their families, [...] Read more.
The inherited hemoglobin disorders are a challenging topic for many reasons; they are caused by a variety of interesting molecular mechanisms, have a complicated pathophysiology, they constitute a multifaceted medical problem with pain and misery for the patients and unhappiness for their families, create several diagnostic and therapeutic questions, and they have a huge social and economic impact across the countries where they occur in high frequencies. Full article
494 KiB  
Brief Report
Addressing Adherence to Treatment: A Longstanding Concern. The Patients’ Perspective
by Mahmoud Hadipour Dehshal
Thalass. Rep. 2014, 4(3), 4865; https://doi.org/10.4081/thal.2014.4865 - 4 Dec 2014
Viewed by 421
Abstract
Adherence to treatment is a great concern for patients who need long-life treatment. Thalassaemia is an inherited disease for whose treatment team-working is of a considerable importance. To logically face the problem of poor compliance patients, all members of the team ought to [...] Read more.
Adherence to treatment is a great concern for patients who need long-life treatment. Thalassaemia is an inherited disease for whose treatment team-working is of a considerable importance. To logically face the problem of poor compliance patients, all members of the team ought to be aware of the causing factors and the ways to handle the problem. The factors which cause the lack of compliance among patients could be stratified into economic and structural facto. Furthermore, patient-related factors including ethnicity, gender, age, and regimen complexity such as dosing are also noteworthy. The supportive relationship between the health providers and the patients should be also established such as patients’ trust in their doctors. Last but not least, the pattern of health care delivery including the availability of health care requisites and operation of flexible hours and floating working hours. From the patients’ point of view, it is important to be aware of the significance of the adherence to treatment and the importance of providing prompt-routine reminders to patients to understand the consequence of incomplete treatment. Trained and motivated staffs play an effective role to enhance patients’ tendency to pursue the determined treatment. Health decision makers would be better to reinterpret the concept of health to “a state of complete physical, mental and social well-being and not merely the absence of disease or infirmity”. The patients’ role in self-management should not be ignored and “medicalization” has to be altered by the patient centered care. Full article
496 KiB  
Brief Report
Addressing Adherence to Treatment: A Longstanding Concern. The Health Care Professional
by Farrukh Shah
Thalass. Rep. 2014, 4(3), 4864; https://doi.org/10.4081/thal.2014.4864 - 4 Dec 2014
Viewed by 375
Abstract
Today a patient born with thalassaemia major can expect to have a near normal life expectancy and remain free of complications of iron overload with good monitoring and excellent transfusion and chelation regimes. Unfortunately patients still develop complications as a consequence of iron [...] Read more.
Today a patient born with thalassaemia major can expect to have a near normal life expectancy and remain free of complications of iron overload with good monitoring and excellent transfusion and chelation regimes. Unfortunately patients still develop complications as a consequence of iron overload including endocrinopathies and cardiac failure. The main reason behind this failure of effective treatment is inadequate treatment. This can be due to either clinician related factors, patient related factors or lack of adequate provision of medicines and services. In this short paper I will highlight where the challenges lie with regards adherence to treatment and suggest approaches to manage this. Full article
964 KiB  
Review
Non-Transfusion Dependent Thalassemia: Translating Evidence to Guidelines
by Afif R. Harb, Antoine N. Saliba and Ali T. Taher
Thalass. Rep. 2014, 4(3), 4863; https://doi.org/10.4081/thal.2014.4863 - 4 Dec 2014
Viewed by 411
Abstract
The thalassemias are a group of inherited disorders of hemoglobin synthesis characterized by various degrees of defective production of the α- or β-globin chains of adult hemoglobin A. Non-transfusion- dependent thalassemia (NTDT) includes a group of thalassemia patients who do not require regular [...] Read more.
The thalassemias are a group of inherited disorders of hemoglobin synthesis characterized by various degrees of defective production of the α- or β-globin chains of adult hemoglobin A. Non-transfusion- dependent thalassemia (NTDT) includes a group of thalassemia patients who do not require regular RBC transfusions for survival, but may require occasional transfusions due to infection or pregnancy or may require more regular transfusions later in life due to splenomegaly or other complications. Due to the rising phenomenon of global migration, this previously well-localized entity is currently spreading more and more worldwide reaching Northern America and Northern Europe. The clinical picture of NTDT is governed by the severity of the ineffective erythropoiesis and the chronic hemolytic anemia, which, in turn, lead to iron overload, hypercoagulability, and an array of clinical complications involving almost every organ system. Patients with NTDT suffer from complications that are distinct from those encountered in patients with transfusion- dependent thalassemia (TDT) in addition to the complications shared by both TDT and NTDT. As a consequence, patients with NTDT deserve a care specifically tailored to their needs. In the care of patients with NTDT, aiming at a standardized yet personalized care is not an easy task especially that NTDT patients lie on a heterogeneous spectrum with a wide variability in their clinical presentation and response to therapy. Therefore, guidelines emerge as a necessity to answer the specific needs of NTDT patients and the clinicians caring for them. In this article, we summarize the complications most commonly associated with NTDT and the recommendations of the guidelines for the management of patients with NTDT, based on the best available evidence. Full article
512 KiB  
Article
Combination Therapies in Iron Chelation
by Raffaella Origa
Thalass. Rep. 2014, 4(3), 4862; https://doi.org/10.4081/thal.2014.4862 - 4 Dec 2014
Cited by 1 | Viewed by 587
Abstract
The availability of oral iron chelators and new non-invasive methods for early detection and treatment of iron overload, have significantly improved the life expectancy and quality of life of patients with β thalassemia major. However, monotherapy is not effective in all patients for [...] Read more.
The availability of oral iron chelators and new non-invasive methods for early detection and treatment of iron overload, have significantly improved the life expectancy and quality of life of patients with β thalassemia major. However, monotherapy is not effective in all patients for a variety of reasons. We analyzed the most relevant reports recently published on alternating or combined chelation therapies in thalassemia major with special attention to safety aspects and to their effects in terms of reduction of iron overload in different organs, improvement of complications, and survival. When adverse effects, such as gastrointestinal upset with deferasirox or infusional site reactions with deferoxamine are not tolerable and organ iron is in an acceptable range, alternating use of two chelators (drugs taken sequentially on different days, but not taken on the same day together) may be a winning choice. The association deferiprone and deferoxamine should be the first choice in case of heart failure and when dangerously high levels of cardiac iron exist. Further research regarding the safety and efficacy of the most appealing combination treatment, deferiprone and deferasirox, is needed before recommendations for routine clinical practice can be made. Full article
520 KiB  
Review
Methodologies and Tools Used Today for Measuring Iron Load
by Evangelos Alexiou
Thalass. Rep. 2014, 4(3), 4861; https://doi.org/10.4081/thal.2014.4861 - 4 Dec 2014
Viewed by 374
Abstract
Iron overload is a matter of an extreme clinical importance, in the overall management of Thalassaemia. Magnetic Resonance Imaging (MRI), has evolved in a novel tool for iron quantification during the last decade and it is considered as a validated, accurate and noninvasive [...] Read more.
Iron overload is a matter of an extreme clinical importance, in the overall management of Thalassaemia. Magnetic Resonance Imaging (MRI), has evolved in a novel tool for iron quantification during the last decade and it is considered as a validated, accurate and noninvasive method with worldwide distribution. The MRI scanner exploits the intrinsic magnetic properties of the hydrogen nuclei in order to discriminate the tissue characteristics. The presence of iron in a tissue causes a faster dephasing of the protons and a reduction in T2* and T2. R2 and R2* represent the reciprocal of T2 and T2*. In order to measure the signal intensity and quantify iron concentration the Gradient Echo (GRE) T2* and the Spin Echo (SE) T2 sequence are used. There are two broad groups of techniques to quantify the iron. The signal intensity ratio (SIR) methods and the relaxometry methods. The later are sub grouped in the R2 (T2) relaxometry methods with the predominant of this category being the FerriScan® and the R2* (T2*) methods. CMR Gradient Echo T2* pulse sequence is the preferred technique for the quantification of iron in the heart. The R2 and R2* methodologies are both very accurate in predicting the true LIC with high levels of sensitivity and specificity in the range of clinically important LIC thresholds and can be both used over a wide clinical range, individually. Full article
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Review
Overview of Chelation Recommendations for Thalassaemia and Sickle Cell Disease
by Banu Kaya
Thalass. Rep. 2014, 4(3), 4860; https://doi.org/10.4081/thal.2014.4860 - 4 Dec 2014
Viewed by 388
Abstract
The long term consequences of iron toxicity are mostly reversible with effective iron chelation therapy. Recommendations for use of chelation therapy in transfusion dependent thalassaemia (TDT), sickle cell disease (SCD) and non transfusion dependent thalassaemia (NTDT) continue to evolve as our knowledge and [...] Read more.
The long term consequences of iron toxicity are mostly reversible with effective iron chelation therapy. Recommendations for use of chelation therapy in transfusion dependent thalassaemia (TDT), sickle cell disease (SCD) and non transfusion dependent thalassaemia (NTDT) continue to evolve as our knowledge and clinical experience increases. Improved chelation options including drug combinations and a better understanding of condition specific factors may help to improve efficiency of chelation regimens and meet the needs of patients more effectively. Full article
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Abstract
Iron in Haemoglobinopathies and Rare Anaemias
by John Porter
Thalass. Rep. 2014, 4(3), 4859; https://doi.org/10.4081/thal.2014.4859 - 4 Dec 2014
Cited by 2 | Viewed by 386
Abstract
Iron overload in haemoglobinopathies and rare anaemias may develop from increased iron absorption secondary to hepcidin suppression, and/or from repeated blood transfusions. While the accumulation of body iron load from blood transfusion is inevitable and predictable from the variable rates of transfusion in [...] Read more.
Iron overload in haemoglobinopathies and rare anaemias may develop from increased iron absorption secondary to hepcidin suppression, and/or from repeated blood transfusions. While the accumulation of body iron load from blood transfusion is inevitable and predictable from the variable rates of transfusion in the different conditions, there are some important differences in the distribution of iron overload and its consequences between these. Transfusion-dependent thalassaemia (TDT) is the best described condition in which transfusional overload occurs. Initially iron loads into macrophages, subsquently hepatocytes, and then the endocrine system including the anterior pituiatry and finally the myocardium. The propensity to extrahepatic iron spread increases with rapid transfusion and with inadequate chelation therapy but there is considerable interpatient and interpopulation variability in this tendency. The conduits though which iron is delivered to tissues is through non transferrin iron species (NTBI) which are taken into liver, endocrine tissues and myocardium through L-type calcium channells and possibly through other channells. Recent work by the MSCIO group1 suggests that levels of NTBI are determined by three mechanisms: (i) increasing with iron overload; (ii) increasing with ineffective erythropoieis; (iii) and decreasing when level of transferrin iron utilisation is high. In TDT all three mechanisms increase NTBI levels because transferrin iron utilisation is suppressed by hypertransfusion. It is hypothesized that the transfusion regimen and target mean Hb may have a key impact on NTBI levels because high transfusion regimes may suppress the ‘sink’ effect of the erythron though decreased clearance of transferrin iron. In sickle cell disease (SCD) without blood transfusion the anaemia results mainly from haemolysis rather than from ineffective erythropoiesis.2 Thus there is a tendency to iron depletion because of urinary iron loss from intrascular haemolysis outweighs any increased iron absortion from hepcidin suppression. These effects result in a low trasferrin saturation and NTBI levels and a low tendency from extrahepatic iron distribution. In rare anaemias that result from low production of red cells such as Diamond Blackfan Anaemia (DBA) there is little or no clearance of transferrin iron by the erythron. This leads to high NTBI and a high tendency to extrahepatic iron distribution in DBA. These differences potentially impact on strategies for monitoring and treatment of iron overload in these different conditions. Full article
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Abstract
The Example of the UK SHOT Haemovigilance System
by Perla Eleftheriou
Thalass. Rep. 2014, 4(3), 4858; https://doi.org/10.4081/thal.2014.4858 - 4 Dec 2014
Viewed by 504
Abstract
SHOT (Serious Hazards of Transfusion scheme) is the UK’s National confidential haemovigilance system, and was set up in 1996. It is an independent, confidential, professionally led haemovigilance scheme. Initially the reporting was voluntary but now required by several professional bodies. SHOT publishes annual [...] Read more.
SHOT (Serious Hazards of Transfusion scheme) is the UK’s National confidential haemovigilance system, and was set up in 1996. It is an independent, confidential, professionally led haemovigilance scheme. Initially the reporting was voluntary but now required by several professional bodies. SHOT publishes annual reports with recommendations and circulates to all relevant organizations including the 4 UK Blood services, Departments of Health in England, Wales, Scotland and Northern Ireland, all relevant professional bodies and reporting hospitals. Over the 17 years of reporting, the evidence gathered has prompted changes in transfusion practice from the selection and management of donors to changes in hospital practice, better education and training. Acute transfusion reactions and transfusion-associated circulatory overload carry the highest risk for morbidity and death. Greatest risk to patients remain errors in the process at the point of blood sampling, in the laboratory and at bedside administration. SHOT’s objectives are to use findings to improve standards of hospital transfusion practice, to educate users on transfusion hazards and prevention, to aid production of clinical guidelines in blood transfusion and to inform national policy on transfusion safety. MHRA is the UK competent authority to which serious adverse reactions and events have to be reported annually. Overall the most common adverse incidents are caused by errors, resulting in the transfusion of an incorrect component or one that does not meet the specific requirements of the patient (e.g. not irradiated or not appropriately antigen matched). TACO (transfusion associated circulatory overload) accounts for most deaths and major morbidity reported to SHOT but is overall underreported. Transfusions are not always given appropriately. This may be due to wrong haemoglobin results, failure to assess patients appropriately, or avoidable use of emergency O RhD negative units because of poor communication or planning. Review of cases of haemolytic transfusion reactions (HTR) shows that they are observed mainly in Sickle Cell Disease patients. HTR are associated with major morbidity (10/16 cases in sickle cell patients over 3 years) and death (a child in 2010). SCD patients are at particular risk of alloimmunization and this can be reduced by red cell phenotyping prior to the first transfusion followed by routine matching for at least the Rh and Kell groups. SHOT output data led over the time to the development of strategies to improve transfusion safety such as the implementation of guidelines for improving practice, implementation of the National Comparative Audit of Blood Transfusion programme, the publication of the Better blood transfusion initiatives and the establishment of The UK transfusion laboratory collaborative. Full article
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Article
Multidisciplinary Care in Haemoglobinopathies
by Adriana Ceci, Laura Mangiarini, Fedele Bonifazi, Rossella Conte and on behalf of the HTA-THAL Multiregional Registry
Thalass. Rep. 2014, 4(3), 4875; https://doi.org/10.4081/thal.2014.4875 - 24 Nov 2014
Cited by 4 | Viewed by 541
Abstract
While most complications are related to haemoglobinopathies and their treatment, it is also possible to observe substantial differences in comorbidities’ onset and seriousness which depend also to the different HPs genotypes. These differences should be carefully considered when health authorities set up and [...] Read more.
While most complications are related to haemoglobinopathies and their treatment, it is also possible to observe substantial differences in comorbidities’ onset and seriousness which depend also to the different HPs genotypes. These differences should be carefully considered when health authorities set up and manage adequate care systems and treatments plans. We describe services organisation in Italy including the availability of multispecialty care and tools, in the HPs units participating to the HTA-THAL Multiregional Registry, with the aim to derive the impact of the services and multispecialty care availability on the management of the disease and on the patients wellbeing. The high dispersion and heterogeneity of services demonstrated, exposes the Italian system to a high risk of: (a) inappropriate use of economical and medical resources, (b) limited access to multidisciplinary care of some patients with apparent inequality among different centres, and (c) low patients satisfaction with the services provided. The identification of a ‘standard for HPs services’ is necessary not only at national but also at interventional level in order to implement collaborative research and the identification and networking of reference’ centres worldwide. Following the big efforts provided in the last years here there is a new challenging mission for the TIF. Full article
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