Advances in screening of thalassaemia

Article Medicine, General & Internal

A MALDI-TOF mass spectrometry-based haemoglobin chain quantification method for rapid screen of thalassaemia

Jian Zhang et al.

Summary: This study constructed a machine learning model based on MALDI-TOF mass spectrometry to screen for thalassaemia, achieving good classification performance and showing great potential for rapid screening in large populations.

ANNALS OF MEDICINE (2022)

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Article Medical Laboratory Technology

An online alpha-thalassemia carrier discrimination model based on random forest and red blood cell parameters for low HbA2 cases

Pinning Feng et al.

Summary: The machine learning model developed in this study demonstrated higher PPV and NPV in identifying alpha-thalassemia carriers from low HbA(2) cases compared to traditional screening methods. The model based on random forest with 5 clinical features showed better accuracy, specificity, NPV, PPV, and AUC in the independent test set, indicating its potential for rapid discrimination of alpha-thalassemia carriers.

CLINICA CHIMICA ACTA (2022)

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Article Hematology

Application of an optimized interpretation model in capillary hemoglobin electrophoresis for newborn thalassemia screening

Jie Zou et al.

Summary: This study demonstrates the reliable performance of capillary hemoglobin electrophoresis for newborn thalassemia screening with an optimized interpretation model, making it suitable for large-scale population screening.

INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY (2022)

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Article Multidisciplinary Sciences

Significance of borderline HbA2 levels in β thalassemia carrier screening

Stacy Colaco et al.

Summary: Increased HbA(2) levels are typical in beta-thalassemia carriers, but some carriers have borderline HbA(2) levels. This study identified the determinants of borderline HbA(2) levels in 205 individuals and found that genetic factors play a role in this condition.

SCIENTIFIC REPORTS (2022)

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Article Hematology

Hematological Parameters in Individuals with Beta Thalassemia Trait in South Sumatra, Indonesia

Dian Puspita Sari et al.

Summary: This study aimed to determine the reference values of hematological parameters and hemoglobin analysis for beta-thalassemia and to identify the differences in hematological characteristics between beta(0) and beta(+) phenotypes. The results showed that MCH values can be used as a screening tool for predicting beta(0)-thalassemia.

ANEMIA (2022)

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Article Medical Laboratory Technology

Proteoforms and their expanding role in laboratory medicine

Lauren M. Forgrave et al.

Summary: The term proteoforms refers to the different structures of a protein product, including variations in amino acid sequence and post-translational modifications, and plays a crucial role in the complexity of biological organisms. The use of proteoforms as biomarkers in medicine has been long-established. Analytical techniques, such as mass spectrometry, have evolved to detect and quantify proteoforms, with various applications in clinical research and patient care.

PRACTICAL LABORATORY MEDICINE (2022)

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Article Medical Laboratory Technology

Rapid Molecular Detection for Differentiation of Homozygous HbE and (ss)0-Thalassemia/HbE in Samples Related With HbE >80% and Variable HbF Levels

Wanicha Tepakhan et al.

Summary: The study validated a novel rapid molecular testing method for differentiation of homozygous HbE and HbE/β(0)-thalassemia genotypes. Results showed 100% concordance compared to conventional methods, highlighting its rapid, simple, cost-effective nature and its suitability for routine laboratory settings.

LABORATORY MEDICINE (2021)

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Article Medicine, General & Internal

Evaluation of diagnostic accuracy tests of erythrocyte indexes in the differential diagnosis of beta thalassemia minor and iron deficiency anemia: A preliminary report

Tevfik Balci et al.

Summary: The study compared the differential diagnosis of iron deficiency anemia and beta-thalassemia minor, finding that the Sirdah index, Ehsani index, and Mentzer index showed the best diagnostic performance, which can be used to more effectively distinguish between the two types of anemia.

CUKUROVA MEDICAL JOURNAL (2021)

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Article Engineering, Biomedical

Automatic identification of abnormal blood smear images using color and morphology variation of RBCS and central pallor

Samiur Rahman et al.

Summary: The proposed method in this study accurately segments and identifies different red blood cells in blood smear images, achieving a high average accuracy of 97% and effectively identifying abnormalities in peripheral blood smear images.

COMPUTERIZED MEDICAL IMAGING AND GRAPHICS (2021)

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Article Energy & Fuels

Characterization of nitrogen-containing compounds in petroleum fractions by online reversed-phase liquid chromatography-electrospray ionization Orbitrap mass spectrometry

Yueyi Xia et al.

Summary: A method based on RPLC-HR MS using Orbitrap MS was proposed for the accurate characterization of heteroatom compounds in petroleum fractions. The technique successfully obtained detailed heteroatom class species and corresponding DBE vs carbon number distributions, providing a viable alternative to the expensive FT-ICR MS in petroleum production and processing.

FUEL (2021)

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Article Biochemistry & Molecular Biology

Multiplex Quantitative Real-Time Polymerase Chain Reaction and High-Resolution Melting Analysis for Identification of a Couple At-Risk of Having a Newborn with Severe Thalassemia

Chedtapak Ruengdit et al.

Summary: This study successfully used multiplex quantitative real-time PCR (qPCR) with high-resolution melting (HRM) analysis to diagnose couples at risk of having a newborn with severe thalassemia in northern Thailand. The method accurately detected common mutations related to alpha(0)-thalassemia and beta-thalassemia. It can be used for routine molecular diagnosis, especially in endemic regions.

HEMOGLOBIN (2021)

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Article Biochemistry & Molecular Biology

Dominant β-Thalassemia Phenotype Caused by Hb Dieppe (HBB: c.383A>G): Another Case Report

Huan-Qing Chen et al.

Summary: Certain mutations of the beta-globin gene can lead to beta-thalassemia, while missense mutations in exon 3 can cause unstable globins and result in a dominant beta-thalassemia phenotype.

HEMOGLOBIN (2021)

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Article Computer Science, Artificial Intelligence

Biological computation and computational biology: survey, challenges, and discussion

Zaineb Chelly Dagdia et al.

Summary: Biological computation and computational biology involve the design and application of computational techniques inspired by natural biota, as well as the study of biological systems using computational techniques. This study highlights the mutual benefits between biology and computer science, and emphasizes how nature has influenced the development of computer science.

ARTIFICIAL INTELLIGENCE REVIEW (2021)

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Article Biochemistry & Molecular Biology

Evaluation of the High Resolution Melting Approach for Detection of β-Thalassemia Gene Mutations

Amna Tariq et al.

Summary: Beta-thalassemia is one of the most common genetic disorders in Pakistan, with genetic counseling and prenatal diagnosis playing important roles in prevention and control. This study evaluated the PCR-HRM analysis as a useful method for detecting common beta-thal mutations found in Pakistan.

HEMOGLOBIN (2021)

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Article Pathology

A Comparative Evaluation of Capillary Electrophoresis, Cation-Exchange High-Performance Liquid Chromatography, and Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry for the Screening of Hemoglobin Variants

Miao Xu et al.

Summary: Capillary electrophoresis (CE) showed the highest accuracy in screening for Hb variants in southern China, detecting all of the top ten common variants. MALDI-TOF MS is suitable for use as an auxiliary method rather than a stand-alone method.

AMERICAN JOURNAL OF CLINICAL PATHOLOGY (2021)

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Article Medicine, General & Internal

Screening of Some Indicators for Alpha-Thalassemia in Fujian Province of Southern China

Lin Zheng et al.

Summary: This study aimed to investigate the screening efficiency of MCV, MCH, and HbA(2) in different genotypes of alpha-thalassemia in Fujian Province, China. The results showed significant differences in the distribution of these indicators between different groups, and combined screening improved the detection rate of alpha-thalassemia.

INTERNATIONAL JOURNAL OF GENERAL MEDICINE (2021)

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Review Hematology

The value of the red cell distribution width index versus other parameters in the differentiation between iron deficiency anemia and beta thalassemia trait among children in Mosul, Iraq

Aws H. Al-Numan et al.

Summary: This study utilized a cross-sectional design to investigate the role of red blood cell distribution width index (RDWI) in distinguishing between beta-thalassemia trait (BTT) and iron deficiency anemia (IDA) in children. The results showed that RDWI had a high discriminant ability, with a suggested cutoff value for differentiation. RDWI may be a useful screening parameter in differentiating between BTT and IDA.

EXPERT REVIEW OF HEMATOLOGY (2021)

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Article

Molecular and Haematological Characteristics of alpha-Thalassemia Deletions in Yogyakarta Special Region, Indonesia

Nailil Husna et al.

Reports of Biochemistry and Molecular Biology (2021)

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Article Biochemical Research Methods

Advances in mass spectrometric methods for detection of hemoglobin disorders

Pushpanjali Dasauni et al.

Summary: Hemoglobin disorders can be divided into hemoglobin variants and thalassemias, caused by alterations in hemoglobin molecules. Mass spectrometry plays a crucial role in protein identification, biomarker discovery, and can be used for detecting hemoglobin disorders.

ANALYTICAL BIOCHEMISTRY (2021)

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Article Biochemistry & Molecular Biology

Development of a High Resolution Melting Curve Analysis for the Detection of Hemoglobin δ-Chain Variants in Thailand and Identification of Hb A2-Walsgrave [codon 52 (GAT>CAT), Asp→His; HBD:c.157G>C] in a Pregnant Woman from Southern Thailand

Thanet Prajantasen et al.

Summary: This study identified an unreported Hb A2 variant, Hb A2-Walsgrave, in Thailand and developed a HRM curve assay for four delta-globin chain variants found in the Thai population. The HRM assay allows for the detection of both known and unknown mutations and simultaneous differentiation between heterozygous and homozygous alleles, supporting the prevention and control of thalassemias and hemoglobinopathies in Thailand.

GENETIC TESTING AND MOLECULAR BIOMARKERS (2021)

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Article Biochemistry & Molecular Biology

A Novel α-Globin Chain Variant, Hb Nanchang [HBA2: c.46G>A, Codon 15 (GGT>AGT) (Gly→Ser)], Detected by Matrix-Assisted Laser Desorption Ionization-Time of Flight Mass Spectrometry

Anping Xu et al.

Summary: A new alpha chain variant of hemoglobin, named Hb Nanchang, was discovered during Hb A(1c) measurement by MALDI-TOF mass spectrometry. This variant, with a mass of 15155 Da, cannot be detected by conventional methods and was confirmed to have a heterozygous missense mutation through sequencing.

HEMOGLOBIN (2021)

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Article Hematology

Clinical utility of Abbott Alinity hq extended red blood cell parameters in differentiating β-thalassemia trait and iron deficiency anemia

Zainab Mukhtar et al.

Summary: The study demonstrated that the Abbott Alinity hq advanced optical RBC technology is effective in differentiating between iron deficiency anemia and beta-thalassemia carrier status. Various red cell parameters and mathematical formulas showed high discriminative power, highlighting the diagnostic utility of extended red cell analysis for these two common microcytic anemias.

INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY (2021)

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Article Medical Laboratory Technology

Evaluation of intervention strategy of thalassemia for couples of childbearing ages in Centre of Southern China

Fan Jiang et al.

Summary: The free intervention strategy for thalassemia in childbearing couples in Guangzhou was found to be cost-effective, reducing the risk of related diseases and providing a reference for population thalassemia screening.

JOURNAL OF CLINICAL LABORATORY ANALYSIS (2021)

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Editorial Material Radiology, Nuclear Medicine & Medical Imaging

Artificial intelligence in medical imaging and radiation oncology: Opportunities and challenges

David Thwaites et al.

JOURNAL OF MEDICAL IMAGING AND RADIATION ONCOLOGY (2021)

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Review Biotechnology & Applied Microbiology

Borderline HbA2 levels: Dilemma in diagnosis of beta-thalassemia carriers

Stacy Colaco et al.

Summary: There is inconsistency in the exact definition of diagnostic levels of HbA(2) for beta thalassemia trait. Among individuals with borderline HbA(2) levels, 35.4% carry a molecular defect, highlighting the importance of a comprehensive molecular work up for accurate diagnosis of borderline HbA(2) beta thalassemia carriers.

MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH (2021)

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Review Physiology

The Evolving Role of Next-Generation Sequencing in Screening and Diagnosis of Hemoglobinopathies

Ahlem Achour et al.

Summary: Next-generation sequencing (NGS) has rapidly transitioned from a research setting to a clinical application, becoming the preferred method for detecting disease-causing variants in various genetic diseases. NGS plays an important role in screening and diagnosing hemoglobinopathies, with added value in large-scale screening and complex cases. It is a useful addition to existing methods for diagnosing these disorders.

FRONTIERS IN PHYSIOLOGY (2021)

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Article Biochemistry & Molecular Biology

A Novel Hemoglobin Variant Hb Liaobu [α107(G14)Val→Leu, HBA2: c.322G>C] Detected by Matrix-Assisted Laser Desorption Ionization-Time-of-Flight Mass Spectrometry

Xue-Mei Tan et al.

Summary: A novel hemoglobin variant, Hb Liaobu, was identified and characterized in a Chinese family through various experimental methods. It was confirmed to be a nonpathogenic variant, resolving confusion in clinical diagnosis within the family.

HEMOGLOBIN (2021)

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Article Oncology

Differential diagnosis of thalassemia and iron deficiency anemia in pregnant women using new formulas from multidimensional analysis of red blood cells

Haijun Xiao et al.

Summary: The study investigated the utility of erythrocyte and reticulocyte parameters for distinguishing between iron deficiency anemia (IDA) and thalassemia trait (TT) in pregnant women. Results showed significant differences between IDA and TT groups. Formulas MHA1 and MHA2 were found to be useful in the differential diagnosis of alpha-TT and beta-TT from IDA in pregnant women.

ANNALS OF TRANSLATIONAL MEDICINE (2021)

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Article Pathology

Combined use of gap-PCR and next-generation sequencing improves thalassaemia carrier screening among premarital adults in China

Jianghong Zhao et al.

JOURNAL OF CLINICAL PATHOLOGY (2020)

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Article Medicine, Research & Experimental

Electrophoresis features and genotypes of Hb bart's hydrops fetalis

Youqiong Li et al.

SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION (2020)

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Article Biochemistry & Molecular Biology

Development of the Next Generation Sequencing-Based Diagnostic Test for β-Thalassemia and its Validation in a Pashtun Family

Bibi Sabiha et al.

HEMOGLOBIN (2020)

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Review Biochemistry & Molecular Biology

Update in Laboratory Diagnosis of Thalassemia

Thongperm Munkongdee et al.

FRONTIERS IN MOLECULAR BIOSCIENCES (2020)

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Article Medical Laboratory Technology

Verification of 20 Mathematical Formulas for Discriminating Between Iron Deficiency Anemia and Thalassemia Trait in Microcytic Anemia

Johannes J. M. L. Hoffmann et al.

LABORATORY MEDICINE (2020)

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Article Medicine, Research & Experimental

Identification of a new hemoglobin variant Hb Liuzhou [HBA1:C.182A→G] by MALDI-TOF mass spectrometry during HbA1c measurement

Anping Xu et al.

SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION (2020)

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Article Biochemistry & Molecular Biology

Molecular Characterization of β- and α-Globin Gene Mutations in Individuals with Borderline Hb A2 Levels

Surada Satthakarn et al.

HEMOGLOBIN (2020)

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Article Oncology

From multisource data to clinical decision aids in radiation oncology: The need for a clinical data science community

Joanna Kazmierska et al.

RADIOTHERAPY AND ONCOLOGY (2020)

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Review Medicine, General & Internal

Discriminant indexes to simplify the differential diagnosis between iron deficiency anemia and thalassemia minor in individuals with microcytic anemia

Fernando Minervo Pimentel Reis et al.

REVISTA DA ASSOCIACAO MEDICA BRASILEIRA (2020)

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Article Hematology

A novel β-thalassemia variant at HBB:c.14delC (Codon 4, -C) identified via next-generation sequencing

Junkun Chen et al.

HEMATOLOGY (2020)

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Review Medical Laboratory Technology

Thalassemia in the laboratory: pearls, pitfalls, and promises

Gunay Aliyeva et al.

CLINICAL CHEMISTRY AND LABORATORY MEDICINE (2019)

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Article Medical Laboratory Technology

Next-generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, PR China

Haoqing Zhang et al.

JOURNAL OF CLINICAL LABORATORY ANALYSIS (2019)

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Article Medical Laboratory Technology

Diagnosis of Hemoglobinopathy and β-Thalassemia by 21 Tesla Fourier Transform Ion Cyclotron Resonance Mass Spectrometry and Tandem Mass Spectrometry of Hemoglobin from Blood

Lidong He et al.

CLINICAL CHEMISTRY (2019)

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Article Pathology

Abnormal red blood cell morphological changes in thalassaemia associated with iron overload and oxidative stress

Pornthip Chaichompoo et al.

JOURNAL OF CLINICAL PATHOLOGY (2019)

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Article Biochemistry & Molecular Biology

Quadrupole-Time-of-Flight Mass Spectrometric Identification of Hemoglobin Subunits α, β, γ and δ in Unknown Peaks of High Performance Liquid Chromatography of Hemoglobin in β-Thalassemias

Uday Y. H. Abdullah et al.

HEMOGLOBIN (2019)

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Article Genetics & Heredity

Shine & Lal index as a predictor for early detection of β-thalassemia carriers in a limited resource area in Bandung, Indonesia

Ani Melani Maskoen et al.

BMC MEDICAL GENETICS (2019)

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Editorial Material Oncology

Diagnosis of hemoglobinopathy and β-thalassemia by 21-Tesla Fourier transform ion cyclotron resonance mass spectrometry

Jae-Seok Kim et al.

ANNALS OF TRANSLATIONAL MEDICINE (2019)

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Article Multidisciplinary Sciences

Diagnostic performance of hematological discrimination indices to discriminate between βeta thalassemia trait and iron deficiency anemia and using cluster analysis: Introducing two new indices tested in Iranian population

Mina Jahangiri et al.

SCIENTIFIC REPORTS (2019)

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Article Obstetrics & Gynecology

Can RBC Indices be Used as Screening Test for Beta-Thalassemia in Indian Antenatal Women?

Mayura Baliyan et al.

JOURNAL OF OBSTETRICS AND GYNECOLOGY OF INDIA (2019)

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Article Hematology

Diagnosis of Compound Heterozygous Hb Tak/β-Thalassemia and HbD-Punjab/β-Thalassemia by HbA2 Levels on Capillary Electrophoresis

Sitthichai Panyasai et al.

INDIAN JOURNAL OF HEMATOLOGY AND BLOOD TRANSFUSION (2018)

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Article Hematology

Diagnosis of Compound Heterozygous Hb Tak/β-Thalassemia and HbD-Punjab/β-Thalassemia by HbA2 Levels on Capillary Electrophoresis

Sitthichai Panyasai et al.

INDIAN JOURNAL OF HEMATOLOGY AND BLOOD TRANSFUSION (2018)

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Article Medical Laboratory Technology

Comparison between capillary zone electrophoresis and capillary isoelectric focusing for thalassemia screening in southern China

Feng Lu et al.

JOURNAL OF CLINICAL LABORATORY ANALYSIS (2018)

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Article Medicine, General & Internal

Hemolysis area: A new parameter of erythrocyte osmotic fragility for screening of thalassemia trait

Thanusak Tatu et al.

JOURNAL OF LABORATORY PHYSICIANS (2018)

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Article Medical Laboratory Technology

Flow cytometric osmotic fragility test: Increased assay sensitivity for clinical application in pediatric hematology

Olga Ciepiela et al.

CYTOMETRY PART B-CLINICAL CYTOMETRY (2018)

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Article Hematology

The role of red cell distribution width in the differential diagnosis of iron deficiency anemia and non-transfusion-dependent thalassemia patients

Pokpong Piriyakhuntorn et al.

HEMATOLOGY REPORTS (2018)

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Review Genetics & Heredity

β-Thalassemia

Raffaella Origa

GENETICS IN MEDICINE (2017)

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Article Hematology

Diagnosis of common hemoglobinopathies among South East Asian population using capillary isoelectric focusing system

H. Srivorakun et al.

INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY (2017)

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Article Genetics & Heredity

Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China

Jing He et al.

GENETICS IN MEDICINE (2017)

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Article Biochemical Research Methods

A novel tandem mass spectrometry method for first-line screening of mainly beta-thalassemia from dried blood spots

Chaowen Yu et al.

JOURNAL OF PROTEOMICS (2017)

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Article Medical Laboratory Technology

New Bioinformatics-Based Discrimination Formulas for Differentiation of Thalassemia Traits From Iron Deficiency Anemia

Abdul Hafeez Kandhro et al.

LABORATORY MEDICINE (2017)

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Article Medical Laboratory Technology

New Bioinformatics-Based Discrimination Formulas for Differentiation of Thalassemia Traits From Iron Deficiency Anemia

Abdul Hafeez Kandhro et al.

LABORATORY MEDICINE (2017)

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Article Multidisciplinary Sciences

A new red cell index and portable RBC analyzer for screening of iron deficiency and Thalassemia minor in a Chinese population

Lieshu Tong et al.

SCIENTIFIC REPORTS (2017)

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Article Hematology

Laboratory diagnosis of thalassemia

V. Brancaleoni et al.

INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY (2016)

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Review Medical Laboratory Technology

Discriminant indices for distinguishing thalassemia and iron deficiency in patients with microcytic anemia: a meta-analysis

Johannes J. M. L. Hoffmann et al.

CLINICAL CHEMISTRY AND LABORATORY MEDICINE (2015)

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Article Medical Laboratory Technology

Hemoglobinopathy Screening by Osmotic Fragility Test Based on Flow Cytometer or Naked Eye

Rinkle Mohapatra et al.

CYTOMETRY PART B-CLINICAL CYTOMETRY (2014)

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Article Hematology

Co-inherited β-thalassemia trait and HbH disease: clinical characteristics and interference in diagnosis of thalassemia by high-performance liquid chromatography

X. -L. Yin et al.

INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY (2012)

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Advances in screening of thalassaemia

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