Abstract
Introduction: Hemoglobinopathies are the most common genetic disorder wordlwide and because of migrations are become an emerging global health problem. Screening programmes for Sickle cell disease and Thalassemia have been implemented in some countries, but are not a common practice, due to a lack in the accuracy of the methods and to the costs of the analyses.Objectives: The objective of this study was the application of the thermogravimetry coupled to chemometrics as new screening method to perform an early diagnosis of thalassemia and sickle cell disease.Methods: Whole blood samples (30 μL) from sickle cell anemia and thalassemia patients were analyzed using the thermobalance TG7 and the resulting curves were compared with those of healthy individuals. A chemometric approach based on Principal Components Analysis (PCA) was exploited to enhance correlation between thermogravimetric profiles and a model of prediction by Partial Least Square Discriminant Analysis (PLS-DA) was developed and validated.Results: The characteristic profile of the blood sample thermal decomposition and the first derivative of the TG curve showed that patients were clearly distinguished from healthy individuals as a result of different amounts of water and corpuscular fraction of blood. The chemometric approach based on PCA allowed a quick identification of differences between healthy subjects and patients and also between thalassemic and sickle cell anemia subjects. Chemometric tools (PLS-DA) were used to validate a model of prediction to process the thermogravimetric curves and to obtain in 1 h an accurate diagnosis. The TGA/Chemometric test permitted to perform first level test for hemoglobinopathies with the same accuracy of confirmatory analyses obtained by the molecular investigation.Conclusions: A screening test based on the coupling of thermogravimetry and chemometrics was optimized for the differential diagnosis of hemoglobinopathies. The novel test is able to simultaneously perform a simple and fast diagnosis of sickle cell anemia or thalassemia, in a single analysis of few microliters of non-pretreated whole blood at low cost, and with high accuracy. Moreover this method results particularly suitable in pediatric patients as it requires small sample volumes and is able to characterize also transfused patients.
Highlights
Hemoglobinopathies are the most common genetic disorder wordlwide and because of migrations are become an emerging global health problem
Thalassemia syndromes are characterized by the absence or reduced β-globin chain synthesis, are heterogeneous at the molecular level with almost 300 point mutations and deletions classified as severe, mild and silent that can produce clinical and hematological phenotypes of variable severity ranging from the asymptomatic carrier to the severe transfusion-dependent type
The group of Sickle Cell Anemia (SCA) patients was characterized by a chronic hemolytic anemia with a decrease in the number of red blood cell counts (RBC) and a corresponding decrease in the levels of Hb and Hct
Summary
Hemoglobinopathies are the most common genetic disorder wordlwide and because of migrations are become an emerging global health problem. Hemoglobinopathies are the most common genetic disorder wordlwide, and include the Sickle Cell Disease (SCD) (Schnog et al, 2004; Rees et al, 2010; Kato et al, 2018), caused by structural changes in the globins chains of hemoglobin (Hb), and the thalassemia syndromes (Weatherall and Clegg, 2001a; Thein, 2013) that are disorders of globin chains expression (Schechter, 2008; Steinberg, 2008; Kohne, 2011). SCD is a disorder of hemoglobin synthesis characterized by the production of an altered form of hemoglobin, hemoglobin S (HbS) for a mutation in the sixth codon of the β globin gene, which results in the substitution of glutamic acid for valine. The most severe form is homozygous HbSS (Sickle cell anemia, SCA), but there are other compound heterozygous conditions such as HbS and β-thalassemia, or HbS and other Hb variants. Homozygosity or compound heterozygosity for β-thalassemia mutations cause a severe spectrum of anemias called thalassemia intermedia and thalassemia major (Cao and Galanello, 2010)
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