Abstract
Background:
Many discriminant formulas have been reported for distinguishing thalassemia trait from iron deficiency in patients with microcytic anemia. Independent verification of several discriminant formulas is deficient or even lacking. Therefore, we have retrospectively investigated discriminant formulas in a large, well-characterized patient population.
Methods:
The investigational population consisted of 2664 patients with microcytic anemia: 1259 had iron deficiency, 1196 ‘pure’ thalassemia trait (877 β- and 319 α-thalassemia), 150 had thalassemia trait with concomitant iron deficiency or anemia of chronic disease, and 36 had other diseases. We investigated 25 discriminant formulas that only use hematologic parameters available on all analyzers; formulas with more advanced parameters were disregarded. The diagnostic performance was investigated using ROC analysis.
Results:
The three best performing formulas were the Jayabose (RDW index), Janel (11T), and Green and King formulas. The differences between them were not statistically significant (p>0.333), but each of them had significantly higher area under the ROC curve than any other formula. The Jayabose and Green and King formulas had the highest sensitivities: 0.917 both. The highest specificity, 0.925, was found for the Janel formula, which is a composite score of 11 other formulas. All investigated formulas performed significantly better in distinguishing β- than α-thalassemia from iron deficiency.
Conclusions:
In our patient population, the Jayabose RDW index, the Green and King formula and the Janel 11T score are superior to all other formulas examined for distinguishing between thalassemia trait and iron deficiency anemia. We confirmed that all formulas perform much better in β- than in α-thalassemia carriers and also that they incorrectly classify approximately 30% of thalassemia carriers with concomitant other anemia as not having thalassemia. The diagnostic performance of even the best formulas is not high enough for making a final thalassemia diagnosis, but in countries with limited resources, they can be helpful in identifying those patients who need further examinations for genetic anemia.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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- The challenges of genetic risk scores for the prediction of coronary heart disease
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- Advanced lipoprotein testing for cardiovascular diseases risk assessment: a review of the novel approaches in lipoprotein profiling
- A review of the challenge in measuring and standardizing BCR-ABL1
- Mini Review
- Challenges in the analysis of epigenetic biomarkers in clinical samples
- Opinion Paper
- Defining a roadmap for harmonizing quality indicators in Laboratory Medicine: a consensus statement on behalf of the IFCC Working Group “Laboratory Error and Patient Safety” and EFLM Task and Finish Group “Performance specifications for the extra-analytical phases”
- Genetics and Molecular Diagnostics
- Assessment of EGFR mutation status using cell-free DNA from bronchoalveolar lavage fluid
- General Clinical Chemistry and Laboratory Medicine
- A survey of patients’ views from eight European countries of interpretive support from Specialists in Laboratory Medicine
- Verification of examination procedures in clinical laboratory for imprecision, trueness and diagnostic accuracy according to ISO 15189:2012: a pragmatic approach
- Expressing analytical performance from multi-sample evaluation in laboratory EQA
- A candidate reference method for serum potassium measurement by inductively coupled plasma mass spectrometry
- Practical motives are prominent in test-ordering in the Emergency Department
- Technical and clinical validation of the Greiner FC-Mix glycaemia tube
- Comparison of pneumatic tube system with manual transport for routine chemistry, hematology, coagulation and blood gas tests
- Accuracy of cerebrospinal fluid Aβ1-42 measurements: evaluation of pre-analytical factors using a novel Elecsys immunosassay
- Evaluation of cannabinoids concentration and stability in standardized preparations of cannabis tea and cannabis oil by ultra-high performance liquid chromatography tandem mass spectrometry
- Analytical performance and diagnostic accuracy of six different faecal calprotectin assays in inflammatory bowel disease
- Novel immunoassays for detection of CUZD1 autoantibodies in serum of patients with inflammatory bowel diseases
- Hematology and Coagulation
- Critical appraisal of discriminant formulas for distinguishing thalassemia from iron deficiency in patients with microcytic anemia
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- Immunoparesis in IgM gammopathies as a useful biomarker to predict disease progression
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- Letters to the Editor
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- Intra-laboratory variation and its effect on gestational diabetes diagnosis
- Evaluation of long-term imprecision of automated complete blood cell count on the Sysmex XN-9000 system
- Sensitivity of the Sysmex XN9000 WPC-channel for detection of monoclonal B-cell populations
- Evaluation of biotin interference on immunoassays: new data for troponin I, digoxin, NT-Pro-BNP, and progesterone
- Stability of procalcitonin in cerebrospinal fluid
- Between-laboratory analysis of IgG antibodies against Aspergillus fumigatus in paired quality control samples
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- Great need for changes in higher education in Greece
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Articles in the same Issue
- Frontmatter
- Editorials
- Reporting LDL-cholesterol levels in the era of intensive lipid management: a clarion call
- The challenges of genetic risk scores for the prediction of coronary heart disease
- Reviews
- Advanced lipoprotein testing for cardiovascular diseases risk assessment: a review of the novel approaches in lipoprotein profiling
- A review of the challenge in measuring and standardizing BCR-ABL1
- Mini Review
- Challenges in the analysis of epigenetic biomarkers in clinical samples
- Opinion Paper
- Defining a roadmap for harmonizing quality indicators in Laboratory Medicine: a consensus statement on behalf of the IFCC Working Group “Laboratory Error and Patient Safety” and EFLM Task and Finish Group “Performance specifications for the extra-analytical phases”
- Genetics and Molecular Diagnostics
- Assessment of EGFR mutation status using cell-free DNA from bronchoalveolar lavage fluid
- General Clinical Chemistry and Laboratory Medicine
- A survey of patients’ views from eight European countries of interpretive support from Specialists in Laboratory Medicine
- Verification of examination procedures in clinical laboratory for imprecision, trueness and diagnostic accuracy according to ISO 15189:2012: a pragmatic approach
- Expressing analytical performance from multi-sample evaluation in laboratory EQA
- A candidate reference method for serum potassium measurement by inductively coupled plasma mass spectrometry
- Practical motives are prominent in test-ordering in the Emergency Department
- Technical and clinical validation of the Greiner FC-Mix glycaemia tube
- Comparison of pneumatic tube system with manual transport for routine chemistry, hematology, coagulation and blood gas tests
- Accuracy of cerebrospinal fluid Aβ1-42 measurements: evaluation of pre-analytical factors using a novel Elecsys immunosassay
- Evaluation of cannabinoids concentration and stability in standardized preparations of cannabis tea and cannabis oil by ultra-high performance liquid chromatography tandem mass spectrometry
- Analytical performance and diagnostic accuracy of six different faecal calprotectin assays in inflammatory bowel disease
- Novel immunoassays for detection of CUZD1 autoantibodies in serum of patients with inflammatory bowel diseases
- Hematology and Coagulation
- Critical appraisal of discriminant formulas for distinguishing thalassemia from iron deficiency in patients with microcytic anemia
- Reference Values and Biological Variations
- Reference ranges of thromboelastometry in healthy full-term and pre-term neonates
- Cancer Diagnostics
- Immunoparesis in IgM gammopathies as a useful biomarker to predict disease progression
- Cardiovascular Diseases
- Assessment of the clinical utility of adding common single nucleotide polymorphism genetic scores to classical risk factor algorithms in coronary heart disease risk prediction in UK men
- Time and age dependent decrease of NT-proBNP after septal myectomy in hypertrophic obstructive cardiomyopathy
- Infectious Diseases
- Higher serum caspase-cleaved cytokeratin-18 levels during the first week of sepsis diagnosis in non-survivor patients
- Letters to the Editor
- Data mining for age-related TSH reference intervals in adulthood
- Intra-laboratory variation and its effect on gestational diabetes diagnosis
- Evaluation of long-term imprecision of automated complete blood cell count on the Sysmex XN-9000 system
- Sensitivity of the Sysmex XN9000 WPC-channel for detection of monoclonal B-cell populations
- Evaluation of biotin interference on immunoassays: new data for troponin I, digoxin, NT-Pro-BNP, and progesterone
- Stability of procalcitonin in cerebrospinal fluid
- Between-laboratory analysis of IgG antibodies against Aspergillus fumigatus in paired quality control samples
- Mass spectrometry vs. immunoassay in clinical and forensic toxicology: qui modus in rebus est?
- Great need for changes in higher education in Greece
- A note from the Editor in Chief regarding the Letter to the Editor “Great need for changes in higher education in Greece”