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An Innovative Multilevel Test for Hemoglobinopathies: TGA/Chemometrics Simultaneously Identifies and Classifies
Roberta Risoluti1, Patrizia Caprari2, Giuseppina Gullifa1
1Department of Chemistry, Sapienza - University of Rome, Rome, Italy.
Frontiers in Molecular Biosciences
|August 28, 2020
Summary
A new thermogravimetry and chemometrics method offers accurate, low-cost, and rapid screening for hemoglobinopathies like sickle cell disease and thalassemia. This technique requires minimal blood, making it ideal for early diagnosis, especially in pediatric patients.
Area of Science:
- Analytical Chemistry
- Biochemistry
- Genetics
Background:
- Hemoglobinopathies, including sickle cell disease and thalassemia, are prevalent genetic disorders globally, posing an emerging health challenge due to population migration.
- Current screening programs often lack accuracy and are costly, hindering widespread implementation.
- There is a need for improved diagnostic methods for early detection and management of these conditions.
Purpose of the Study:
- To apply thermogravimetry coupled with chemometrics as a novel screening method for early diagnosis of thalassemia and sickle cell disease.
- To develop and validate a predictive model for accurate and rapid differentiation of hemoglobinopathies.
Main Methods:
- Analysis of whole blood samples (30 μL) from patients and healthy individuals using thermogravimetry (TG7).
- Application of chemometric approaches, including Principal Component Analysis (PCA) for data interpretation.
- Development and validation of a Partial Least Square Discriminant Analysis (PLS-DA) model for prediction.
Main Results:
- Thermogravimetric profiles and their derivatives clearly distinguished patients from healthy individuals due to variations in water and corpuscular blood fractions.
- PCA enabled rapid identification of differences between healthy subjects, thalassemic patients, and sickle cell anemia patients.
- The PLS-DA model achieved high accuracy in diagnosing hemoglobinopathies within one hour, comparable to molecular investigations.
Conclusions:
- A screening test combining thermogravimetry and chemometrics was optimized for differential diagnosis of hemoglobinopathies.
- The novel test provides a simple, fast, low-cost, and highly accurate method for diagnosing sickle cell anemia and thalassemia using minimal, non-pretreated whole blood.
- This method is particularly suitable for pediatric patients and can analyze transfused patients effectively.
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