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Thalassemia Reports
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Thalassaemia: A Complex Mix of Genetic Entities Challenging Healthcare Providers...
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Thalassaemia: A Complex Mix of Genetic Entities Challenging Healthcare Providers Globally

A special issue of Thalassemia Reports (ISSN 2039-4365).

Deadline for manuscript submissions: closed (31 October 2022) | Viewed by 19252

Special Issue Editors

Dr. Michael Angastiniotis

E-Mail Website
Guest Editor
Thalassemia International Federation, Strovolos, Cyprus
Interests: paediatrician; management of chronic disorders; quality thalassaemia services; epidemiology; prevention of genetic disorders
Dr. Androulla Eleftheriou

E-Mail Website
Guest Editor
Thalassaemia International Federation, Nicosia, Cyprus
Interests: virologist; patient support activist; thalassaemia services

Special Issue Information

Dear Colleagues, 

Thalassaemia syndromes are caused by mutations that  reduce or prevent the production of a globin chain that makes up haemoglobin molecules. The most clinically significant are those affecting the major components of adult haemoglobin (HbA), which are the alpha globin chains (more than 15 different genetic mutations) that cause  alpha thalassaemia, and the beta globin chains (with around 300 known mutations).

Alpha-thalassemia (α-thalassemia) has two clinically significant forms: Hb Bart hydrops fetalis syndrome (caused by the deletion/inactivation of all four α-globin genes; --/--) and HbH disease (caused by deletion/inactivation of three α-globin genes; --/-α).

Beta –thalassaemia has a wide spectrum of severity and is generally characterised clinically by the degree of dependency on blood transfusion, the transfusion-dependent thalassaemia (TDT), and the non-transfusion-dependent (NTDT). In both cases, long term complications are a universal outcome that require constant monitoring by a multi-disciplinary team.   

Beyond the haematological aspects the multi-organ pathology and the danger of premature death, albeit amenable mortality, and the possibility of achieving a good quality of life, these diseases necessitate services that are complex and resource-demanding. While congenital disorders can lead to childhood mortality, these conditions can be manageable chronic conditions in adults. This outcome is achievable through well-supported services with expert, coordinated multi-faceted care and technological support (such as MRI, state-of-the-art blood banking, and laboratory support)

These demands are best achieved if the epidemiology is known, the real burden of disease recognised, and appropriate services are financed that take into account chronicity as well as complexity. In addition, these are conditions that are preventable, so appropriate services may also be chosen in order to offer such a service to healthy carriers.

In the proposed Special Issue, we expect the following aspects to be covered:

  1. Epidemiology
    a) What is known about the epidemiology of hydrops fetalis and HbH disease in Asia and the Mediterranean. Are migrations making a significant difference to North America and Europe?
    b) What is known about the epidemiology of beta thalassaemia and the impact of recent migrations? The need for surveys and registries should be discussed.
  2. Burden of disease: This is beyond numbers and includes survival, complications, quality of life, and psychosocial impact.
  3. Screening and counselling.
  4. Quality of care: multi-disciplinary care and quality improvement.

We invite the submission of manuscripts covering the above-mentioned topics for inclusion in this Special Issue.

Dr. Michael Angastiniotis
Dr. Androulla Eleftheriou
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Thalassemia Reports is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1000 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • epidemiology
  • burden of disease
  • prevention
  • quality of care

Published Papers (7 papers)

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7 pages, 1237 KiB  
Article
New-Generation Ektacytometry Study of Red Blood Cells in Different Hemoglobinopathies and Thalassemia
by Elena Krishnevskaya, Marta Molero, Águeda Ancochea, Ines Hernández and Joan-Lluis Vives-Corrons
Thalass. Rep. 2023, 13(1), 70-76; https://doi.org/10.3390/thalassrep13010007 - 16 Feb 2023
Cited by 1 | Viewed by 2058
Abstract
Next-generation ektacytometry provided by the osmoscan module of the Laser Optical Rotational Red Cell Analyser (LoRRca) MaxSis is, so far, one of the best complementary diagnostic tools for congenital rare anaemias due to red blood cell defects. Osmotic gradient ektacytometry (OGE) is currently [...] Read more.
Next-generation ektacytometry provided by the osmoscan module of the Laser Optical Rotational Red Cell Analyser (LoRRca) MaxSis is, so far, one of the best complementary diagnostic tools for congenital rare anaemias due to red blood cell defects. Osmotic gradient ektacytometry (OGE) is currently considered the gold standard for the diagnosis of red cell membrane disorders, especially hereditary spherocytosis (HS). Impairment of red cell deformability, leading to a decrease in red cell survival rate, is the common trait of hereditary haemolytic anaemias; in general, it is the consequence of an abnormal cell shape, increased rigidity or dehydration. Up to now, the next-generation ektacytometry has been mainly used for the differential diagnosis of red blood cell membranopathies, but experience with structural hemoglobinopathies and thalassemia is still scarce. However, recently, many new forms of therapy are being developed for the treatment of hemoglobinopathies, particularly sickle-cell disease and β-thalassemia; clinical interest in ektacytometry is increasing and should be further explored. Here, we have evaluated the OGE profiles provided by the osmoscan module of the LoRRca ektacytometer in 96 patients with different hemoglobinopathies, both structural and thalassemia, with the aim of analysing their usefulness for the early diagnosis of these disorders either individually or in co-inheritance with other hereditary RBC defects. In addition, this study aims to improve our knowledge of the contribution of red cell deformability, osmotic fragility and intracellular viscosity to the physiopathology of haemolysis, especially when these disorders are a cause of rare anaemia. From this study, we conclude that the osmoscan profile provides complementary information on red cell deformability and hydration homeostasis that may contribute to the better understanding of the physiopathology of decreased red cell survival and hemolysis which is present in some patients. Full article
(This article belongs to the Special Issue Thalassaemia: A Complex Mix of Genetic Entities Challenging Healthcare Providers Globally)
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11 pages, 269 KiB  
Article
TIF Standards for Haemoglobinopathy Reference Centres
by Michael Angastiniotis, Androulla Eleftheriou, Mohammed Naveed, Ali Al Assaf, Andreas Polynikis, Elpidoforos S. Soteriades and Dimitrios Farmakis
Thalass. Rep. 2023, 13(1), 10-20; https://doi.org/10.3390/thalassrep13010002 - 23 Dec 2022
Viewed by 1848
Abstract
Haemoglobin disorders are hereditary, lifelong and characterised by the need for multifaceted management. The question of quality in meeting standards of care that are likely to bring the best possible outcomes for patients is a necessary consideration. The concept of reference centres supporting [...] Read more.
Haemoglobin disorders are hereditary, lifelong and characterised by the need for multifaceted management. The question of quality in meeting standards of care that are likely to bring the best possible outcomes for patients is a necessary consideration. The concept of reference centres supporting peripheral treatment centres in a formal networking relationship is a response to the real needs of patients and a practical solution in public health terms. In this report, a team of advisors of Thalassaemia International Federation (TIF) attempts to suggest a set of standards for haemoglobinopathy reference centres, also based on the founding principles of TIF, aiming to act as a guideline for its member associations and professional collaborators. The standards described herein can form the basis of an accreditation process and also serve as a guide for those who would advocate for quality improvement for thalassaemia services. Full article
(This article belongs to the Special Issue Thalassaemia: A Complex Mix of Genetic Entities Challenging Healthcare Providers Globally)
9 pages, 818 KiB  
Article
Impact of COVID-19 Pandemic on Pre-Transfusion Hemoglobin Level and Frequency of Transfusion in Transfusion-Dependent Thalassemia Patients in Indonesia
by Ludi Dhyani Rahmartani, Micheylla Kusumaning Dewi, Stephen Diah Iskandar, Anastasia Michelle Pratanata, Ganda Ilmana, Teny Tjitra Sari, Anna Mira Lubis and Pustika Amalia Wahidiyat
Thalass. Rep. 2023, 13(1), 1-9; https://doi.org/10.3390/thalassrep13010001 - 22 Dec 2022
Viewed by 1919
Abstract
Transfusion-dependent thalassemia is the most severe form of thalassemia; patients require regular blood transfusions to maintain their hemoglobin level. The COVID-19 pandemic has disrupted the routine measures for controlling chronic diseases like thalassemia. This study aims to measure the difference in pre-transfusion hemoglobin [...] Read more.
Transfusion-dependent thalassemia is the most severe form of thalassemia; patients require regular blood transfusions to maintain their hemoglobin level. The COVID-19 pandemic has disrupted the routine measures for controlling chronic diseases like thalassemia. This study aims to measure the difference in pre-transfusion hemoglobin levels and the frequency of transfusions before and during pandemic. This retrospective cross-sectional study utilized medical record data of 101 transfusion-dependent thalassemia (TDT) patients treated in Cipto Mangunkusumo Hospital (CMH) from 2019–2021. The dependent variables of this study were pre-transfusion hemoglobin level and transfusion attendance. The pre-pandemic phase was defined as 30 March 2019 to 29 March 2020, whereas the during-pandemic phase was from 30 March 2020 to 29 March 2021. Up to 59.4% of subjects had suboptimal Hb levels of <9.0 g/dL, even before the pandemic, and this increased to 71.3% during the pandemic. The mean pre-transfusion hemoglobin level before the pandemic was 8.71 g/dL, and this decreased to 8.46 g/dL (p value < 0.001). Transfusion attendance before and during the pandemic showed no significant difference (p-value = 0.990). Our study shows poorer control of pre-transfusion Hb levels during the pandemic. This puts patients at higher risk of developing many long-term complications. Full article
(This article belongs to the Special Issue Thalassaemia: A Complex Mix of Genetic Entities Challenging Healthcare Providers Globally)
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16 pages, 914 KiB  
Article
Alpha-Thalassemia: Diversity of Clinical Phenotypes and Update on the Treatment
by Duantida Songdej and Suthat Fucharoen
Thalass. Rep. 2022, 12(4), 157-172; https://doi.org/10.3390/thalassrep12040020 - 22 Nov 2022
Cited by 2 | Viewed by 5537
Abstract
One of the more common single-gene disorders worldwide is α-thalassemia, carriers of which are found at variable frequencies (>1%) across all tropical and subtropical countries. Two linked α-globin genes on each allele of chromosome 16 regulate α-globin chain production. Deletion of one or [...] Read more.
One of the more common single-gene disorders worldwide is α-thalassemia, carriers of which are found at variable frequencies (>1%) across all tropical and subtropical countries. Two linked α-globin genes on each allele of chromosome 16 regulate α-globin chain production. Deletion of one or more α-globin genes is the most frequent molecular defect found in α-thalassemia, whereas non-deletional mutations also occur, leading to unstable α-globin chains. HbH is the most common clinically important α-thalassemia disease and occurs when three α-globin genes are deleted/mutated, leaving only one copy of the gene intact. HbH can be divided into deletional (--/-α) and non-deletional genotypes (--/αTα). Whereas clinical phenotypes of the former are usually homogenously mild to moderate, those of the latter can be diverse. As HbH disease is particularly prevalent in Southeast Asia and some parts of the Mediterranean region, where β-thalassemia is also prevalent, affected patients are sometimes left undertreated. Therefore, hematologists and general physicians need to be educated to provide optimal disease monitoring and early identification of those with more severe phenotypes. Some issues regarding transfusion and iron chelation management differ from those of β-thalassemia, and these need to be recognized. Hb Bart’s hydrops fetalis syndrome (BHFS) is the most severe form of α-thalassemia; affected patients lack production of α-globin chains. Recent advances in fetal medicine and neonatal intensive care have made it possible for BHFS to no longer constitute a universally fatal disorder. Transfusion and chelation strategies for rare survivors are distinct and require updating. Full article
(This article belongs to the Special Issue Thalassaemia: A Complex Mix of Genetic Entities Challenging Healthcare Providers Globally)
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8 pages, 499 KiB  
Article
Redesigning New Policy Options for Thalassemia Prevention in Sri Lanka
by Nadeeja Amarasinghe, Amila Amarasena, Anoj Thabrew, Prabhath Werawatte, Anuja Premawardhena, Farnaz Malik, Mohamed Abusayeed and Champika Wickramasinghe
Thalass. Rep. 2022, 12(4), 135-142; https://doi.org/10.3390/thalassrep12040018 - 19 Oct 2022
Cited by 1 | Viewed by 2451
Abstract
Sri Lanka, a country with 22 million people, has nearly 2000 thalassemia patients with severe thalassemia, two-thirds of whom have beta thalassemia major (TM). The current prevention program based on promoting “safe marriages”, which has been in existence for over 15 years, has [...] Read more.
Sri Lanka, a country with 22 million people, has nearly 2000 thalassemia patients with severe thalassemia, two-thirds of whom have beta thalassemia major (TM). The current prevention program based on promoting “safe marriages”, which has been in existence for over 15 years, has failed to reduce thalassemia major births. We set about to examine the cost-effectiveness of novel policy options for thalassemia prevention in Sri Lanka. Methods: The current cost for treatment of a thalassemia major patient (USD 2602/yr) was compared against the cost per reduction of single birth with three novel strategies, namely intensifying the screening in the current five districts combined with an education program (policy option 1), a nationwide screening program (policy option 2), and antenatal screening combined with the termination of pregnancy (policy option 3). The incremental cost-effectiveness ratio (ICER) of the different strategies was calculated. Results: The status quo was considered to reduce one TM birth whilst the new policy options were able to reduce births by 14, 35, and 48, respectively. The costs incurred for the program for a year for status quo and the three novel programs were USD 104,788, 173,884, 781,372, and 904,186 respectively. Cost per prevention of a thalassemia major birth was USD 87,324, 12,420, 22,324, and 20,084, respectively. The lifetime cost per treatment of a thalassemia major patient was USD 34,653. Conclusions: Given the current legal restriction on termination of pregnancy for fetal indications, policy option 2, an island-wide screening with mass education, is the most cost-effective and will be expected to deliver a substantial reduction in new births. Full article
(This article belongs to the Special Issue Thalassaemia: A Complex Mix of Genetic Entities Challenging Healthcare Providers Globally)
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5 pages, 191 KiB  
Perspective
Juggling between the Cost and Value of New Therapies: Does Science Still Serve Patient Needs?
by Androulla Eleftheriou, Dimitrios Farmakis, Panos Englezos, Shobha Tuli, Elena Mylona, George Constantinou, Riyad Elbard, Saeed Jafaar Al-Awadhi, Sheikha Sheikha Bint Seif Al-Nahyan, Robert Ficarra, Michelle Abi Saad, Anton Skafi, Loris Angelo Brunetta, Fatemeh Hashemi, Eleni Michalaki, Abdul Baset Mohd Merdas and Michael Angastiniotis
Thalass. Rep. 2023, 13(1), 33-37; https://doi.org/10.3390/thalassrep13010004 - 28 Jan 2023
Cited by 1 | Viewed by 1775
Abstract
Thalassaemia International Federation (TIF), representing the united voice of people with thalassaemia and their families globally, has been striving for more than three decades to empower research, by academic communities and industry, to focus on developing a safe and effective curative approach for [...] Read more.
Thalassaemia International Federation (TIF), representing the united voice of people with thalassaemia and their families globally, has been striving for more than three decades to empower research, by academic communities and industry, to focus on developing a safe and effective curative approach for thalassaemia. Such a cure would lead to new lives with equal opportunities and challenges, as for every other person not suffering from a severe chronic disease. A gene therapy product was finally authorised in May 2019 by the European Medicinal Agency, thus marking a milestone in the history of the disease. However, after this conditional authorization, everyone focused on numbers and opted for cost of illness and cost-effectiveness studies, inadmissibly ignoring patients’ voices and needs. The product was finally withdrawn from Europe, despite the fact that all implicated stakeholders, including governments, academia and industry always knew that an innovative and complex therapy would be expensive but always supported and fought for its development. In this article, TIF expresses its view on this issue, including some thoughts on how to address the high cost of innovative therapies. Full article
(This article belongs to the Special Issue Thalassaemia: A Complex Mix of Genetic Entities Challenging Healthcare Providers Globally)
14 pages, 855 KiB  
Case Report
The Outcomes of Patients with Haemoglobin Disorders in Cyprus: A Joined Report of the Thalassaemia International Federation and the Nicosia and Paphos Thalassaemia Centres (State Health Services Organisation)
by Michael Angastiniotis, Soteroula Christou, Annita Kolnakou, Evangelia Pangalou, Irene Savvidou, Dimitrios Farmakis and Androulla Eleftheriou
Thalass. Rep. 2022, 12(4), 143-156; https://doi.org/10.3390/thalassrep12040019 - 04 Nov 2022
Cited by 4 | Viewed by 2649
Abstract
Haemoglobinopathies, including thalassaemias and sickle-cell syndromes, are demanding, lifelong conditions that pose a significant burden to patients, families, and healthcare systems. Despite the therapeutic advances and the resulting improvements in prognosis accomplished in past decades, these patients still face important challenges, including suboptimal [...] Read more.
Haemoglobinopathies, including thalassaemias and sickle-cell syndromes, are demanding, lifelong conditions that pose a significant burden to patients, families, and healthcare systems. Despite the therapeutic advances and the resulting improvements in prognosis accomplished in past decades, these patients still face important challenges, including suboptimal access to quality care in areas with developing economies, changing epidemiology due to massive migration flows, an evolving clinical spectrum due to ageing in well-treated patients, and limited access to novel high-cost therapies. We herein describe the organization of healthcare services for haemoglobinopathies in Cyprus—with particular focus on beta-thalassaemia, the most prevalent condition in this region—along with selected patient outcomes. This report aims at underscoring the fact that nationally funded and well-coordinated prevention and care programmes for chronic and complex conditions, such as haemoglobinopathies, with active involvement from patient organizations lead to effective disease control and excellent outcomes in survival, quality of life, social adaptation, and public health savings, and allow timely and effective responses to emerging crises, such as the COVID-19 pandemic. The Cyprus paradigm could therefore serve as a blueprint for the organization or adaptation of haemoglobinopathy programs in other countries since these disorders are still widely occurring. Full article
(This article belongs to the Special Issue Thalassaemia: A Complex Mix of Genetic Entities Challenging Healthcare Providers Globally)
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