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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 1 (April 2018) – 27 articles

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670 KiB  
Brief Report
Thalime: A Mobile App Designed Just for Patients and Their Families
by Hatley Forrest McMicking
Thalass. Rep. 2018, 8(1), 7496; https://doi.org/10.4081/thal.2018.7496 - 18 Apr 2018
Viewed by 1361
Abstract
Introducing the first mobile app designed specifically for the Thalassemia community; Thalime, your personalized private community. Thalime is a free app that connects patients and caregivers of Thalassemia to others who know what you’re going through. Learn about your condition from a trusted [...] Read more.
Introducing the first mobile app designed specifically for the Thalassemia community; Thalime, your personalized private community. Thalime is a free app that connects patients and caregivers of Thalassemia to others who know what you’re going through. Learn about your condition from a trusted source. Improve your well-being with health-tracking tools. Get support from others just like you. With personalized disease management tools designed to make life easier every day, Thalime is your all-in-one health resource that empowers you to be in control of your health. Build your private peer community to learn, share and receive support. Follow programs and set goals with our personalized recommendations and virtual coaching. Track your progress with our visual health tracker for blood transfusions and medication tracker. Additional health tracker tools allow you to monitor and share your mood, energy, pain and more. Full article
780 KiB  
Article
TIF 2.0: The Thal e-Course and TIF Expert Patients’ Programme for Disease-Related Education and Self-Management Skills in Thalassaemia
by Victoria Antoniadou, Michael Angastiniotis and Androulla Eleftheriou
Thalass. Rep. 2018, 8(1), 7495; https://doi.org/10.4081/thal.2018.7495 - 18 Apr 2018
Viewed by 934
Abstract
In response to the fundamental shift that has been taking place in the way chronic diseases are perceived and managed and the increasingly established role of patients as equal partners in the management of their condition, the Thalassaemia International Federation (TIF) has undertaken [...] Read more.
In response to the fundamental shift that has been taking place in the way chronic diseases are perceived and managed and the increasingly established role of patients as equal partners in the management of their condition, the Thalassaemia International Federation (TIF) has undertaken the design and development of a comprehensive online Expert Patients’ Programme (EPP) for patients with thalassaemia. Focusing particularly on β-thalassaemia, the most severe form of thalassaemia, the goal of the programme is to develop patients’ disease-related knowledge and self-care skills and enable them to co-manage their disease in a meaningful partnership with their treating physicians. An important goal of this ecourse is to empower patients to advocate for the improvement of national treatment services in every affected country. The aim of this article is threefold: (1) Relate TIF’s EPP with the goals and outcomes of other EPPs, as they are made available in the literature. (2) Describe the rationale and distinguishing features of TIF’s EPP on the basis of learning theories of knowledge acquisition and attrition, and best practices from the scientific disciplines of Human Computer Interaction (HCI) and Technology-Assisted Learning (TEL). (3) Relay the objectives of TIF’s EPP and the intended international impact in relation to TIF’s mission. Full article
510 KiB  
Brief Report
Safety and Efficacy of Drugs: What Do I Need to Know?
by Mahmoud Hadipour Dehshal
Thalass. Rep. 2018, 8(1), 7494; https://doi.org/10.4081/thal.2018.7494 - 18 Apr 2018
Viewed by 823
Abstract
Access to the essential medicines is an important challenge in the developing countries [...] Full article
526 KiB  
Conference Report
TIF Conference Presentation in Detail
by Barrister Abid Waheed Shaikh
Thalass. Rep. 2018, 8(1), 7493; https://doi.org/10.4081/thal.2018.7493 - 18 Apr 2018
Viewed by 847
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 [...] Read more.
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.
Full article
660 KiB  
Brief Report
PIGI ZOIS: Pioneering with Credibility
by Vasilios Perifanis, Ourania Pantelidou, Nousiou Charikleia, Miranda Athanassiou-Metaxa and Electra Kolokytha-Grammatikopoulou
Thalass. Rep. 2018, 8(1), 7492; https://doi.org/10.4081/thal.2018.7492 - 18 Apr 2018
Viewed by 856
Abstract
Annual transfusion requirements in Greece exceed 600000 blood units and nearly 20% of them are used for the transfusion of 3.000 patients with Thalassemia. Thalassemia patients need to be transfused properly at the right time and with safe, fresh blood. PIGI ZOIS is [...] Read more.
Annual transfusion requirements in Greece exceed 600000 blood units and nearly 20% of them are used for the transfusion of 3.000 patients with Thalassemia. Thalassemia patients need to be transfused properly at the right time and with safe, fresh blood. PIGI ZOIS is a nonprofit organization that tries to improve the lives of patients through providing proper voluntary blood units to patients and enhancing the Voluntary Blood Donation policy, in Thessaloniki area, which has 350 patients. The mission of PIGI ZOIS is to organize and manage almost 7.000 volunteers to donate their blood for the thalassemic patients. This is achieved by using a phone call reminder, so that the blood volunteer will donate his/her blood to a compatible young patient. All matches are done by a specialized computer program. PIGI ZOIS has donated 90.000 blood units over a period of twenty years. PIGI ZOIS also aims to raise awareness of Thalassemia through an educational program with children in primary schools, with the ultimate goal of encouraging the children to become donors when they reach adulthood. PIGI ZOIS also runs informative campaigns to the public about disease prevention and the general promotion of voluntary blood donation. Full article
512 KiB  
Brief Report
Hepatitis C Virus Treatment Advances for Thalassaemia Patients
by George Papatheodoridis
Thalass. Rep. 2018, 8(1), 7491; https://doi.org/10.4081/thal.2018.7491 - 18 Apr 2018
Cited by 1 | Viewed by 829
Abstract
Chronic infection with hepatitis C virus (HCV) is a major problem for thalassaemia patients, as blood transfusions before 1990 were associated with a high risk of HCV infection [...] Full article
527 KiB  
Editorial
Let’s Talk about Thal: How Communication Can Improve Quality of Life
by Laurice M. Levine
Thalass. Rep. 2018, 8(1), 7490; https://doi.org/10.4081/thal.2018.7490 - 18 Apr 2018
Viewed by 873
Abstract
In many parts of the world, research, improved technology, and better medicine have enabled people with thalassemia to live longer [...] Full article
527 KiB  
Brief Report
Quality of Life: Transfusion Dependent Thalassemia vs Non-Transfusion Dependent Thalassemia
by Mehran Karimi and Nader Cohan
Thalass. Rep. 2018, 8(1), 7489; https://doi.org/10.4081/thal.2018.7489 - 18 Apr 2018
Cited by 1 | Viewed by 678
Abstract
Although the improvements in the treatment and management of thalassemia patients in new years lead to the improved survival and quality of life (QOL) in this group of patients, QOL is still is an important dimension of care in thalassemic patients [...] Full article
508 KiB  
Brief Report
The Role of the Clinical Nurse Specialist in Haemoglobinopathies
by Bernadette Hylton
Thalass. Rep. 2018, 8(1), 7488; https://doi.org/10.4081/thal.2018.7488 - 18 Apr 2018
Viewed by 614
Abstract
The role of the Clinical Nurse Specialist (CNS) is an everdeveloping role that is integral in the care of individuals with haemoglobinopathies [...] Full article
531 KiB  
Article
Osteoporosis in Thalassaemia
by Ersi Voskaridou, Maria Dimopoulou and Evangelos Terpos
Thalass. Rep. 2018, 8(1), 7487; https://doi.org/10.4081/thal.2018.7487 - 18 Apr 2018
Cited by 2 | Viewed by 658
Abstract
Osteoporosis is a prominent cause of morbidity in patients with thalassaemia major (TM) with a complex pathophysiology. Patients with TM and osteoporosis have elevated markers of bone resorption. This increased osteoclast activity seems to be at least partially due to an imbalance in [...] Read more.
Osteoporosis is a prominent cause of morbidity in patients with thalassaemia major (TM) with a complex pathophysiology. Patients with TM and osteoporosis have elevated markers of bone resorption. This increased osteoclast activity seems to be at least partially due to an imbalance in the receptor–activator of nuclear factor-kappa B ligand (RANKL)/osteoprotegerin (OPG) system, which is of great importance for the regulation of osteoclast differentiation and function. Denosumab is a fully human monoclonal antibody that binds to RANKL and thereby inhibits the activation of osteoclasts by RANKL. By blocking RANKL, denosumab inhibits osteoclast formation, function and survival, thereby decreasing bone resorption and increasing bone mass in postmenopausal women and patients with thalassaemia-induced osteoporosis. Full article
619 KiB  
Review
Global Initiatives for Improving Quality Healthcare by the Thalassaemia International Federation
by Andreas Polynikis, Giangos Lavranos and AF Al Assaf
Thalass. Rep. 2018, 8(1), 7486; https://doi.org/10.4081/thal.2018.7486 - 18 Apr 2018
Viewed by 522
Abstract
In today’s health care arena, a number of issues are being raised that have received more attention either from the health care consumers or the media [...] Full article
969 KiB  
Article
Patient Care: Unmet Needs Globally
by Michael Angastiniotis and Androulla Eleftheriou
Thalass. Rep. 2018, 8(1), 7485; https://doi.org/10.4081/thal.2018.7485 - 18 Apr 2018
Viewed by 575
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 [...] Full article
531 KiB  
Brief Report
Adherence to Treatment: Doctor vs Patient Perspective
by Farrukh Shah and Georgios Kaltsounis
Thalass. Rep. 2018, 8(1), 7484; https://doi.org/10.4081/thal.2018.7484 - 18 Apr 2018
Viewed by 569
Abstract
It has been demonstrated over time that patients with haemoglobinopathies who exhibit a high level of compliance to proper therapy benefit not only from higher life expectancy but also from significantly better quality of life. The treatment of thalassaemia consists of blood transfusions [...] Read more.
It has been demonstrated over time that patients with haemoglobinopathies who exhibit a high level of compliance to proper therapy benefit not only from higher life expectancy but also from significantly better quality of life. The treatment of thalassaemia consists of blood transfusions and iron chelation therapy. Managing any complications due to iron overload, performing all necessary clinical and laboratory examinations and dealing effectively with psychological issues are also very important. Blood transfusion scheme must be designed by the treating physician according to the patient’s clinical needs. Chelation therapy should be aimed at selecting the right medication and the right dose. Examinations should be as organized as possible, and the management of complications depends significantly on cooperation with experienced specialists in each respective field. Ultimately, effectiveness of treatment and patient’s psychological well-being (acceptance of the disease and positive attitude) are the most decisive factors, as they seem to be connected to adherence through a mechanism of positive feedback. Hence, professional psychological support should be part of multidisciplinary care. Difference of point of view between doctor and patient can often be the reason behind misinterpretations or misunderstandings. Full article
706 KiB  
Article
National Policies in Ensuring Access to Quality and Safety of Drugs: A Challenge or a Prerequisite
by M. Hadipour Dehshal and M. Tabrizi Namini
Thalass. Rep. 2018, 8(1), 7483; https://doi.org/10.4081/thal.2018.7483 - 18 Apr 2018
Viewed by 711
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 [...] Read more.
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. Full article
516 KiB  
Abstract
Challenges to Management of Pain in Sickle Cell Disease
by Julie Kanter
Thalass. Rep. 2018, 8(1), 7482; https://doi.org/10.4081/thal.2018.7482 - 18 Apr 2018
Viewed by 690
Abstract
Sickle Cell Disease (SCD) is one of the most common blood disorders in the world. Pain is the primary reason for which individuals with SCD interact with the healthcare system. Generally speaking, there are two types of SCD pain: vaso-occlusive pain (or sickle [...] Read more.
Sickle Cell Disease (SCD) is one of the most common blood disorders in the world. Pain is the primary reason for which individuals with SCD interact with the healthcare system. Generally speaking, there are two types of SCD pain: vaso-occlusive pain (or sickle cell disease crisis) and chronic pain caused by an accumulation of organ and tissue damage over time. However, despite its frequency, we have limited understanding about what causes pain in sickle cell disease, how best to manage pain in SCD and (most importantly) how to prevent pain in SCD. For medical providers, pain is also an elusive target due to the difficulty in objectively measuring pain and the importance of relying on patient reported outcomes. To face the challenges in managing pain in SCD, we will review the current understanding of the pathophysiology of vaso-occlusion, the multiple dimensions of the pain experience, and the current methods of measuring and managing pain. We will also review new pharmacologic agents undergoing clinical trials in SCD that will help to prevent pain and improve outcomes in SCD. Full article
833 KiB  
Article
Renal Complications in Thalassemia
by Joseph Sleiman, Ali Tarhini and Ali T. Taher
Thalass. Rep. 2018, 8(1), 7481; https://doi.org/10.4081/thal.2018.7481 - 18 Apr 2018
Cited by 8 | Viewed by 1340
Abstract
Thalassemia is a disease with an extensive morbidity profile affecting almost every organ system. Renal involvement, once considered rare, is an underestimated and poorly studied complication that has been on the rise ever since medical advances granted patients longer life spans. Several studies [...] Read more.
Thalassemia is a disease with an extensive morbidity profile affecting almost every organ system. Renal involvement, once considered rare, is an underestimated and poorly studied complication that has been on the rise ever since medical advances granted patients longer life spans. Several studies and reports have emerged recently to shed light on the seriousness of this complication, although data is still lacking in terms of pathophysiology, diagnosis, prevention and treatment. In this review, we evaluate and compare renal involvement in the transfusion-dependent and independent variants of β-Thalassemia, highlighting the pathophysiology of kidney damage that involves iron overload, chronic anemia, and iron chelation therapy. An in-depth and focused review of the types of injuries incurred is also presented along with the diagnostic biomarkers accompanying each type of injury. Most research so far has focused on the transfusion-dependent thalassemia population being the group with most renal involvement, however recent reports have shown evidence of comparable, if not worse, involvement of the non-transfusion dependent population, sometimes leading to end-stage renal disease. As such, we try to shed light on distinct renal involvements in NTDT whenever available. Full article
773 KiB  
Brief Report
Heart Disease in Patients with Haemoglobinopathies
by Dimitrios Farmakis and George Papingiotis
Thalass. Rep. 2018, 8(1), 7480; https://doi.org/10.4081/thal.2018.7480 - 18 Apr 2018
Viewed by 581
Abstract
Hereditary hemoglobin disorders, also termed haemoglobinopathies, include mainly beta -thalasszemia and sickle cell disease and represent the most common monogenic disorders in human [...] Full article
550 KiB  
Review
Endocrine Complications
by Vincenzo de Sanctis
Thalass. Rep. 2018, 8(1), 7479; https://doi.org/10.4081/thal.2018.7479 - 18 Apr 2018
Cited by 1 | Viewed by 542
Abstract
More than five decades ago, thalassemia major (TM) was fatal in the first decade of life [...] Full article
668 KiB  
Article
Iron Overload and Chelation Therapy in Hemoglobinopathies
by Rayan Bou-Fakhredin, Joseph Elias and Ali T. Taher
Thalass. Rep. 2018, 8(1), 7478; https://doi.org/10.4081/thal.2018.7478 - 18 Apr 2018
Cited by 1 | Viewed by 923
Abstract
Iron overload (IOL) is highly prevalent among patients with hemoglobinopathies; both transfusion dependent thalassemia (TDT) and non-transfusion dependent thalassemia (NTDT). Whether IOL is secondary to regular transfusions like in TDT, or develops from increased intestinal absorption like in NTDT, it can cause significant [...] Read more.
Iron overload (IOL) is highly prevalent among patients with hemoglobinopathies; both transfusion dependent thalassemia (TDT) and non-transfusion dependent thalassemia (NTDT). Whether IOL is secondary to regular transfusions like in TDT, or develops from increased intestinal absorption like in NTDT, it can cause significant morbidity and mortality. In TDT patients, iron accumulation in organ tissues is highly evident, and leads to organ toxicity and dysfunction. IOL in NTDT patients is cumulative with advancing age, and concern with secondary morbidity starts beyond the age of 10 years, as shown by the OPTIMAL CARE study. Several modalities are available for the diagnosis and monitoring of IOL. Serum ferritin (SF) assessment is widely available and heavily relied on in resource-poor countries. Non-invasive iron monitoring using MRI has become the gold standard to diagnose IOL. Three iron chelators are currently available for the treatment of IOL: deferoxamine (DFO) in subcutaneous or intravenous injection, oral deferiprone (DFP) in tablet or solution form, and oral deferasirox (DFX) in dispersible tablet (DT) and film-coated tablet (FCT). Today, the goal of ICT is to maintain safe levels of body iron at all times. Appropriate tailoring ICT with chelator choices and dose adjustment must be implemented in a timely manner. Clinical decision to initiate, adjust and stop ICT is based on SF, MRI-LIC and cardiac T2*. In this article, we review the mechanism of IOL in both TDT and NTDT, the pathophysiology behind it, its complications, and the different ways to assess and quantify it. We will also discuss the different ICT modalities available, and the emergence of novel therapies. Full article
520 KiB  
Brief Report
Optimal Blood Transfusion Therapy in Haemoglobinopathies
by John Porter
Thalass. Rep. 2018, 8(1), 7477; https://doi.org/10.4081/thal.2018.7477 - 18 Apr 2018
Viewed by 542
Abstract
For reasons of time, this short talk will be confined to the optimal frequency, timing, indications and dosing of blood transfusion [...] Full article
695 KiB  
Article
Diagnostic Strategies in Hemoglobinopathy Testing, the Role of a Reference Laboratory in the USA
by Jennifer L. Oliveira
Thalass. Rep. 2018, 8(1), 7476; https://doi.org/10.4081/thal.2018.7476 - 18 Apr 2018
Viewed by 704
Abstract
Although commonly assessed in the context of microcytosis or sickling syndrome screening, hemoglobin mutations may not be as readily considered as a cause of other symptoms. These include macrocytosis with or without anemia, chronic or episodic hemolysis, neonatal anemia, erythrocytosis, cyanosis/hypoxia and methemoglobinemia/ [...] Read more.
Although commonly assessed in the context of microcytosis or sickling syndrome screening, hemoglobin mutations may not be as readily considered as a cause of other symptoms. These include macrocytosis with or without anemia, chronic or episodic hemolysis, neonatal anemia, erythrocytosis, cyanosis/hypoxia and methemoglobinemia/ sulfhemoglobinemia. Hemoglobin disorders commonly interfere with the reliability of Hb A1c measurement. Because the clinical presentation can be varied and the differential diagnosis broad, a systematic evaluation guided by signs and symptoms can be effective. A tertiary care reference laboratory is particularly challenged by the absence of pertinent clinical history and relevant laboratory findings, and appropriate use of resources in a data vacuum can be problematic. To address these issues, our laboratory has constructed testing panels with a tiered strategy utilizing screening assays that detect the most common causes and reflexing additional assays that assess less common etiologies. See Figure 1. Our testing algorithm panels include a rapid hemoglobin fraction monitoring test, a generic diagnostic hemoglobin electrophoresis profile, and more specific diagnostic evaluations for microcytic anemia, hereditary hemolytic anemia, methemoglobinemia and sufhemoglobinemia and erythrocytosis. Use of these testing strategies has facilitated the identification of rare and complex hemoglobin disorders from a wide variety of ethnic groups, including over 500 distinct named alpha, beta and gamma variants (of which 60+ were novel variants at the time of first detection), 99 beta thalassemia mutations and greater than 20 large deletional beta globin cluster deletion subtypes. Full article
568 KiB  
Review
Informed Choice in a Multicultural World
by Mary Petrou
Thalass. Rep. 2018, 8(1), 7475; https://doi.org/10.4081/thal.2018.7475 - 18 Apr 2018
Cited by 1 | Viewed by 538
Abstract
Knowledge and autonomy are key aspects of informed choice; it is important to define what is important for participants to understand, when accepting or declining screening and for individuals to understand that screening is optional and their own personal choice [...] Full article
568 KiB  
Article
New Challenges in Diagnosis of Haemoglobinopathies: Migration of Populations
by John Old, Adele Timbs, Janice McCarthy, Alice Gallienne, Melanie Proven, Michelle Rugless, Herminio Lopez, Jennifer Eglinton, Dariusz Dziedzic, Matthew Beardsall, Mohamed S.M. Khalila and Shirley Henderson
Thalass. Rep. 2018, 8(1), 7474; https://doi.org/10.4081/thal.2018.7474 - 18 Apr 2018
Cited by 1 | Viewed by 897
Abstract
The current influx of economic migrants and asylum seekers from countries with a high prevalence of haemoglobinopathies creates new challenges for health care systems and diagnostic laboratories. The migration of carriers introduces new and novel haemoglobinopathy mutations to the diagnostic repertoire of a [...] Read more.
The current influx of economic migrants and asylum seekers from countries with a high prevalence of haemoglobinopathies creates new challenges for health care systems and diagnostic laboratories. The migration of carriers introduces new and novel haemoglobinopathy mutations to the diagnostic repertoire of a laboratory, often creating new pressures to improve and update the carrier screening technology and diagnostic scope. For antenatal screening programmes, the marriage of partners from different ethnic groups can lead to the risk of compound heterozygote children being born novel mutation combinations, creating problems in the provision of accurate advice regarding the expected phenotype of the thalassaemia or haemoglobinopathy disorder. In the UK, the impact of immigration required the National Haemoglobinopathy Reference laboratory to change the strategy and techniques used for the molecular diagnosis of thalassaemia and the haemoglobinopathies. In 2005, due to the increasingly large range of β-thalassaemia mutations that needed to be diagnosed, the laboratory switched from a three-step screening procedure using ARMS-PCR to a simpler but more expensive one-step strategy of DNA sequencing of the beta and alpha globin genes for all referrals. After ten years of employing this strategy, a further 57 novel thalassaemia and haemoglobionpopthy alleles were discovered (11 new β-chain variants, 15 α-chain variants, 19 β-thalassaemia mutations and 12 α+-thalassaemia mutations), increasing further the extremely heterogeneous spectrum of globin gene mutations in the UK population. Full article
532 KiB  
Article
Diagnosis of Haemoglobinopathies: New Scientific Advances
by Cornelis L. Harteveld
Thalass. Rep. 2018, 8(1), 7473; https://doi.org/10.4081/thal.2018.7473 - 18 Apr 2018
Cited by 2 | Viewed by 853
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 [...] Read more.
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. Full article
512 KiB  
Brief Report
Patients as Equal Partners in Decision-Making: The Global Reality
by Anubha Taneja Mukherjee
Thalass. Rep. 2018, 8(1), 7472; https://doi.org/10.4081/thal.2018.7472 - 18 Apr 2018
Viewed by 542
Abstract
Decision making is an inherently complicated procedure, which by its very nature requires the decision-maker to co-opt all the stakeholders concerned [...] Full article
519 KiB  
Brief Report
Migration: The Aftershocks to the Provision of Healthcare
by Stephan Lobitz
Thalass. Rep. 2018, 8(1), 7471; https://doi.org/10.4081/thal.2018.7471 - 18 Apr 2018
Cited by 1 | Viewed by 553
Abstract
Migration is the “movement of people to a new area or country in order to find work or better living conditions” (Oxford dictionary) [...] Full article
512 KiB  
Editorial
Haemoglobinopathies Care and Cure: Have We Reached the End?
by John Porter
Thalass. Rep. 2018, 8(1), 7470; https://doi.org/10.4081/thal.2018.7470 - 18 Apr 2018
Viewed by 549
Abstract
Recent years have seen accelerating advances in the treatment, monitoring and potential cures for haemoglobin disorders, as the interaction between basic science, pharmaceutical research, and practical medicine intensifies [...] Full article
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