Non-Transfusion-Dependent Thalassemia: A Panoramic Review

Shash, Hwazen

doi:10.3390/medicina58101496

Cited by 10 publications

(11 citation statements)

References 107 publications

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“…Differential diagnosis is especially challenging when both IDA and β-thal are present simultaneously. Elevated erythropoietin levels due to sustanined anemia in β-thal stimulate the release of erythroferrone through erythroblasts ( 13 , 14 ). This increase in erythroferrone, in turn, supresses hepcidine expression.…”

Section: Discussionmentioning

confidence: 99%

Differentinating between non-transfusion dependant β-thalassemia and iron deficinecy anemia in children using ROC and logistic regression analysis: two novel discrimination indices designed for pediatric patients

Turudic,

Vucak,

Kocheva

et al. 2024

Front. Pediatr.

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IntroductionThis cross-sectional study enrolled a group of 271 children with microcytic anemia in order to test the performance of 41 single and 2 composite formulas andindices in distinguishing between β-thalassemia (β-thal) and iron deficiency anemia (IDA) in the pediatric population.MethodsOptimal pediatric cut-off values from the previously published formulas and indices were generated using ROC analysis. Logistic regression in R using generalized linear models (GLM) generated two new indices.ResultsFormulas and indices with optimal cut-offvalues in children with accuracy ≥90% were (in descending order): Matos & Carvalho index, MDHL(Telmissani) formula, England and Fraser formula, Pornprasert index, Sirachainan index, Telmissani (MCHD) formula, CRUISE index, Hameed index, Sargolzaie formula and Zaghloul II index. The CroThalDD-LM1 index has an accuracy of 93.36% (AUC 0.986, 95% CI 0.975–0.997), while the second CroThalDD-LM2 index utilizes absolute reticulocyte count alongside CBC variables, with an accuracy of 96.77% (AUC 0.985, 95% CI 0.988–0.999).Discussion and conclusionWe recommend using aforementioned formulas and indices with corrected cut-off values and accuracy >90% alongside two new proposed indices. A comparison of both native and these new indices is encouraged. These are the first discrimination indices generated and designed precisely for the pediatric population, which includes preschool children.

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Section: Discussionmentioning

confidence: 99%

Differentinating between non-transfusion dependant β-thalassemia and iron deficinecy anemia in children using ROC and logistic regression analysis: two novel discrimination indices designed for pediatric patients

Turudic,

Vucak,

Kocheva

et al. 2024

Front. Pediatr.

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“…Las talasemias se heredan según un patrón autosómico recesivo, lo que significa que ambos padres deben ser portadores para que su descendencia tenga la enfermedad. Los portadores generalmente no presentan síntomas graves, pero pueden transmitir la mutación a sus hijos 5,6 .…”

Section: La Coexistencia De Ciertas Variantes Genéticas Puede Modific...unclassified

“…La talasemia alfa es el resultado de mutaciones en los genes que codifican las cadenas alfa de la hemoglobina (HBA1 y HBA2). Estas mutaciones conducen a una producción deficiente de cadenas alfa, lo que perturba el equilibrio normal de la hemoglobina y tiene consecuencias en la formación de los glóbulos rojos 5,6 .…”

Section: La Coexistencia De Ciertas Variantes Genéticas Puede Modific...unclassified

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Talasemias – Un Enfoque Integrativo

Vanin,

Wandscher,

Fernandes

et al. 2024

Braz. J. Implantol. Health Sci.

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La talasemia, un trastorno hereditario de la hemoglobina, representa un desafío clínico significativo debido a su variabilidad genética y manifestaciones clínicas diversas. Esta revisión científica se adentra en la complejidad de las talasemias, explorando su base genética, las alteraciones hematológicas resultantes y las implicaciones clínicas que afectan la calidad de vida de los pacientes. El siguiente artículo científico se propone a proporcionar una visión integral de las talasemias, abordando su etiología, fisiopatología, anatomía patológica y semiología médica, así como las diversas estrategias de manejo y tratamiento. Se busca consolidar la información más reciente y destacar las áreas clave para futuras investigaciones y avances en el cuidado de pacientes con talasemias. Este estudio se enfocó en investigar las talasemias, un grupo de trastornos genéticos de la hemoglobina que afectan la síntesis de esta proteína esencial para el transporte de oxígeno. En la introducción, se destacó la relevancia global de las talasemias, su prevalencia en poblaciones específicas y la carga de enfermedad asociada. La metodología empleada abarcó un análisis exhaustivo de la literatura científica, revisando estudios clínicos, genéticos y epidemiológicos. Se priorizó la inclusión de investigaciones recientes y relevantes para abordar la complejidad de las talasemias desde múltiples perspectivas. El objetivo principal fue comprender la diversidad genética de las talasemias, sus manifestaciones clínicas y los enfoques de tratamiento actuales. La investigación se centró en identificar las variantes genéticas asociadas con talasemias específicas y evaluar su impacto clínico. En la conclusión, se resaltaron los hallazgos clave, como la variabilidad genética en diferentes poblaciones, la importancia de los métodos diagnósticos precisos y las implicaciones para las estrategias terapéuticas. Se subrayó la necesidad de abordar las talasemias desde un enfoque integral, que incluya estrategias de prevención, diagnóstico temprano y tratamiento personalizado.

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“…Thalassemia can result in numerous types of disorders due to affected alleles, which might differ in their medical significance and requirement of blood transfusions. It comprises of two basic groups: one, TDTs that involve transfusion and two, NTDT [1,32] without the requirement of blood transfusion rendering to phenotyping. Without routine RBC transfusions, TDT patients would have numerous problems and have limited life expectancy.…”

Section: Other Variants Of Thalassemia Carriermentioning

confidence: 99%

Predicting Thalassemia Using Feature Selection Techniques: A Comparative Analysis

Saleem,

Aslam,

Lali

et al. 2023

Diagnostics

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Thalassemia represents one of the most common genetic disorders worldwide, characterized by defects in hemoglobin synthesis. The affected individuals suffer from malfunctioning of one or more of the four globin genes, leading to chronic hemolytic anemia, an imbalance in the hemoglobin chain ratio, iron overload, and ineffective erythropoiesis. Despite the challenges posed by this condition, recent years have witnessed significant advancements in diagnosis, therapy, and transfusion support, significantly improving the prognosis for thalassemia patients. This research empirically evaluates the efficacy of models constructed using classification methods and explores the effectiveness of relevant features that are derived using various machine-learning techniques. Five feature selection approaches, namely Chi-Square (χ2), Exploratory Factor Score (EFS), tree-based Recursive Feature Elimination (RFE), gradient-based RFE, and Linear Regression Coefficient, were employed to determine the optimal feature set. Nine classifiers, namely K-Nearest Neighbors (KNN), Decision Trees (DT), Gradient Boosting Classifier (GBC), Linear Regression (LR), AdaBoost, Extreme Gradient Boosting (XGB), Random Forest (RF), Light Gradient Boosting Machine (LGBM), and Support Vector Machine (SVM), were utilized to evaluate the performance. The χ2 method achieved accuracy, registering 91.56% precision, 91.04% recall, and 92.65% f-score when aligned with the LR classifier. Moreover, the results underscore that amalgamating over-sampling with Synthetic Minority Over-sampling Technique (SMOTE), RFE, and 10-fold cross-validation markedly elevates the detection accuracy for αT patients. Notably, the Gradient Boosting Classifier (GBC) achieves 93.46% accuracy, 93.89% recall, and 92.72% F1 score.

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Non-Transfusion-Dependent Thalassemia: A Panoramic Review

Cited by 10 publications

References 107 publications

Differentinating between non-transfusion dependant β-thalassemia and iron deficinecy anemia in children using ROC and logistic regression analysis: two novel discrimination indices designed for pediatric patients

Differentinating between non-transfusion dependant β-thalassemia and iron deficinecy anemia in children using ROC and logistic regression analysis: two novel discrimination indices designed for pediatric patients

Talasemias – Un Enfoque Integrativo

Predicting Thalassemia Using Feature Selection Techniques: A Comparative Analysis

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