2021 Thalassaemia International Federation Guidelines for …
Beta-thalassemia and particularly its transfusion-dependent form (TDT) is a demanding clinical condition, requiring life-long care and follow-up, ideally in specialized centers and by multidisciplinary teams of experts. Despite the significant progress ...
Update in Laboratory Diagnosis of Thalassemia
Thalassemic red blood cell analysis with an automated hematology analyzer is a primary screening for thalassemia since microcytosis and decreased Hb …
Prediction of $$beta $$ -Thalassemia carriers using …
Laboratory tests for Thalassemia are time-consuming and expensive like high-performance liquid chromatography, Complete Blood Count (CBC) with peripheral …
Performance analysis of machine learning algorithms and screening …
Background. Currently, more than forty discrimination formulae based on red blood cell (RBC) parameters and some supervised machine learning algorithms (MLAs) have been recommended for β-thalassemia trait (BTT) screening.The present study was aimed to evaluate and compare the performance of 26 such formulae and 13 MLAs on …
Support Vector Machine-Based Formula for Detecting …
The blood counts of α thalassemia carriers (α-thal) are similar to those of β thalassemia carriers, except for Hgb A2 that is not elevated. The objective of this study was to determine whether mathematical formulas are effective for detecting suspected α-thal. ... Alpha Thalassemia, Screening, Support Vector Machine, Mathematical Formulas ...
Next-generation sequencing improves thalassemia carrier …
Here, we explore the feasibility of a next-generation sequencing (NGS) screening method specifically for the Dai people. Blood samples were obtained from …
Update in Laboratory Diagnosis of Thalassemia
Recently, screening for both α- and β-thalassemia genes by next-generation sequencing (NGS) has been introduced. This technique gives an accurate diagnosis of thalassemia that may be misdiagnosed by other conventional techniques. The major limitation for using NGS in the screening of thalassemia is its cost which is still …
Predicting Thalassemia Using Feature Selection Techniques: …
We review, analyze, and summarize approaches that pre-process and extract features from datasets related to thalassemia and use machine-learning algorithms to diagnose, classify, and detect it. These algorithms for thalassemia detection and diagnosis are evaluated using performance matrices. ... for thalassemia screening. …
Predicting Thalassemia Using Feature Selection …
We are motivated to examine the development of ML as a thalassemia diagnostic tool in this paper. We can track the sort of change occurring in medical …
Role of Red Cell Indices in Screening for Beta Thalassemia …
Antenatal screening for beta thalassemia trait (BTT) followed by counseling of couples is an efficient way of thalassemia control. Since high performance liquid chromatography (HPLC) is costly, other cost-effective …
Beta-thalassemia
Another major problem in carrier screening is the identification of silent beta-thalassemia or the triple or quadruple alpha globin gene arrangement, both of which may lead to the production of intermediate forms of beta-thalassemia by interacting with typical heterozygous beta-thalassemia.
AlphaPred: A Machine Learning Tool to Aid Alpha Thalassemia Screening
Aims: This study attempted to apply modern machine learning algorithms to alpha-thalassemia screening data, and develop a cost-effective and time-saving ML tool which can accurately predict the ...
Diagnostics | Free Full-Text | Predicting Thalassemia Using …
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 …
Red Cell Indices in Screening of Thalassemia Trait During …
Authors recommend ruling out iron deficiency prior to screening for beta thalassemia and preferably in the first trimester of pregnancy so that antenatal diagnosis can be performed in high-risk subjects if necessary. Keywords: Beta thalassemia; Pregnancy; Red cell indices. ...
Twin Support Vector Machines for Thalassemia Classification
Several previous studies have been incorporated into early screening for diagnosis of thalassemia with machine learning technique based on classification problem, and it showed great performance evaluation beyond 90% accuracy.
Analysis of rare thalassemia genetic variants based on third …
The method designed for thalassemia carrier screening based on third-generation sequencing on the Pacific Biosciences Sequel II platform has been optimized in recent years to detect thalassemia ...
The effeciency of data types for classification performance of Machine …
The effeciency of data types for classification performance of Machine Learning Techniques for screening β-Thalassemia Abstract: Performance of classification methods using Machine Learning Techniques majority depends on the quality of data were used in learning. The transformation techniques are used to increase the efficiency of ...
Laboratory Evaluation of Beta Thalassemia
Beta thalassemia is a group of inherited hemoglobinopathies that can lead to anemia of varying severity.[1] Beta thalassemias are caused by a number of mutations that affect the different aspects of beta globin production, like the transcription, translation, or stability of the beta-globin product. This eventually leads to defective hemoglobin, …
Thalassaemia
Thalassaemia is a group of inherited disorders that affect the amount of haemoglobin a person produces. Haemoglobin refers to a family of compounds all made up of haem (an iron-containing complex), and various globins (protein chains that surround the haem complex).
(PDF) Carrier screening for Beta-thalassaemia: A review of
We discuss the implications for the ethical and acceptable implementation of population carrier screening and identify a paucity of research into the outcomes of thalassaemia screening programmes ...
Clinical Classification, Screening and Diagnosis for Thalassemia
At present, thalassemia diseases are classified into transfusion-dependent thalassemia and non-transfusion-dependent thalassemia. This classification is based on the clinical severity of patients determining whether they do require regular blood transfusions to survive (transfusion-dependent thalass …
A comparative study of K-Nearest Neighbour, Support Vector Machine …
A brief account of recent works on thalassemia screening and classification using machine learning algorithms K nearest neighbor algorithm (KNN) and multilayer perceptron (MLP) have been ...
IJMS | Free Full-Text | Support Vector Machine-Based …
In general, prenatal screening for detecting couples at risk of having a child with α thalassemia in one or the two clinical forms is not cost-effective in countries outside of Asia, but in countries where screening programs for β thalassemia are implemented, including screening for α thalassemia, it does not add significant costs, and the ...
Advances in screening of thalassaemia
Therefore, early, timely, and accurate screening is particularly important. Conventional screening methods for thalassaemia mainly include a complete blood count, blood smear, osmotic fragility test, and haemoglobin analysis. These screening methods …
Screening and counseling for thalassemia | Blood
Children with β-thalassemia major require monthly blood transfusions and daily iron chelation therapy, or stem cell transplantation, to survive. 4,8 Hb E is a common variant hemoglobin in Southeast Asia, and in combination with β-thalassemia mutation can present as thalassemia major.
Support Vector Machine-Based Formula for Detecting …
As mentioned, screening for β thalassemia and SCD is common in many countries, but a byproduct of the screening programs is the detection of possible α thalassemia …
Thalassemia and Hemoglobinopathy Screening By HPLC Method …
Thalassemia and hemoglobinopathies are heterogeneous group of inherited disorders that affects men and women equally. HPLC is a valuable method for hemoglobinopathy and/or thalassemia carrier screening.
Microstrip isoelectric focusing with deep learning for …
Significance. Overall, the presented method of mIEF with deep learning enabled, for the first time, the absolute quantitative detection of Hb, relative quantitation of Hb species, and simultaneous screening of diabetes, anemia, alpha-thalassemia, and beta-thalassemia.
Detection of maternal carriers of common α-thalassemia
In summary, this study presents a novel screening test using maternal cfDNA and a machine learning model to detect maternal carriers of common α-thalassemia deletions.
Applications of next generation sequencing in the screening …
Next-generation sequencing in the molecular screening of thalassemia carriers . Mass screening strategies and appropriate genetic counseling are mandated for people at different life stages in high-risk populations to reduce the births of thalassemia major babies . In highly prevalent regions, carrier screening is mainly aimed toward the ...