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

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

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