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Frontiers in Hemoglobinopathies: New Insights and Methods

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Hemoglobinopathies are a group of autosomal recessive inherited hemoglobin disorders. Deletion or point mutation in α- or β-globin genes cause abnormalities in the synthesis or in the structure of haemoglobin, leading to thalassemia syndromes or structural haemoglobin variants, respectively. β-Thalassemia and ...

Hemoglobinopathies are a group of autosomal recessive inherited hemoglobin disorders. Deletion or point mutation in α- or β-globin genes cause abnormalities in the synthesis or in the structure of haemoglobin, leading to thalassemia syndromes or structural haemoglobin variants, respectively. β-Thalassemia and Sickle Cell Disorders (SCD) are the most widespread autosomal recessive disease. The highest prevalence of both diseases has been recorded in the Mediterranean area, Middle East, Indian subcontinent and north coast of Africa. Moreover, as a result of demographic changes caused by migration of ethnic minority groups with high frequency of these mutations, also Northern Europe and North America countries have developed prevention programs for thalassemia. Many indices and formulas derived from RBC parameters (RBC, MCV, MCH, and RDW) have been proposed to screen β-thalassemia and other microcytic anaemias, and several procedures have been proposed for β-thalassemia carrier screening.

Automated haematology analyzers are now available to give accurate measurement of these indices but, in many situations, the use of RBC indices as the sole means of thalassemia screening is not effective in diagnosis because they demonstrate different and variable values of sensitivity, specificity, and diagnostic reliability for thalassemia. The development of effective and inexpensive techniques for thalassemia screening is extremely important, especially in countries that have populations with a high percentage of the thalassemia trait, high birth rate and low funding.

A predictive model for Thalassemia, based on the TGA coupled in Chemometrics, was first proposed in 2016. There has been considerable interest in this new method because of its numerous advantages for a fast and accurate diagnosis of Thalassemia: no sample pretreatment, one hour of analysis time and automation. Interestingly, correlations were also found between the results achieved by TGA/Chemometrics tools and the hematological clinical evaluation of indices commonly used for diagnosis and the method was demonstrated to be robust and to provide a high-throughput and sensitive tool to obtain an early detection of thalassemia. Further, TGA/chemometrics-based testing was able to identify thalassemia subjects also from blood samples stored at 4oC for 15 days. Such approaches could open the way to prevention programs for thalassemia also in the developing countries.

The aim of this Research Topic is to provide an update on the theme of Thalassemia and Hemoglobinopathies in a multidisciplinary way by collecting new insights from researchers, clinicians and analysts. In this way, the collection will ensure the contribution of different expertise in the field of hematology and analytical methods. The Research Topic welcomes reviews of recent literature and original research papers proposing new methods papers that address different issues such as novel diagnostic methods, prevention programs, screening tools and prediction of biomolecules for diagnosis.


Keywords: Hemoglobinopathy, Haemoglobin, Thalassemia, Analytics, Diagnostics, Screening


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