Special Issue "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 13555
Interests: paediatrician; management of chronic disorders; quality thalassaemia services; epidemiology; prevention of genetic disorders
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:
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.
- Burden of disease: This is beyond numbers and includes survival, complications, quality of life, and psychosocial impact.
- Screening and counselling.
- 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
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.
- burden of disease
- quality of care