A clinical triage score for MLPA testing in children with microcytosis suspected of deletional…

Cohort studyEuropean journal of pediatrics· Aug 2026

A clinical triage score for MLPA testing in children with microcytosis suspected of deletional alpha-thalassemia.

Emre Sanrı, Nihal Aydın, Ezgi Uslu … Alper Uygun

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Emergency MedicineCohort studyDiagnosisQ1IF 3.2

Three-variable clinical score predicted MLPA-detected alpha-thalassemia deletions with AUROC 0.814.

A clinical triage score for MLPA testing in children with microcytosis suspected of deletional alpha-thalassemia.

Emre Sanrı … Alper Uygun

European journal of pediatrics · Aug 2026 · Q1 in Pediatrics

Background

UNLABELLED: Alpha-thalassemia lacks an HbA2-like hematological surrogate to indicate which children with microcytosis warrant molecular testing.

Methods

In this retrospective single-center study, 187 of 201 children referred for alpha-globin MLPA testing (2020-2025) were analyzed.

n = 201 children

Results

score correctly ranked deletion risk most of the time, 1.0 would be perfect

87.1%

Sensitivity

53.8%

Specificity

More results

Internal validation used bootstrap optimism correction (B = 1000), and decision curve analysis assessed clinical utility.

At the Youden-optimal threshold ≥ 2, sensitivity was 87.1% and specificity 53.8%, missing 9 (12.9%); at ≥ 1, sensitivity reached 95.7%.

More results

Sensitivity was highest for the 48 clinically significant two-gene deletions (89.6%).

Decision curve analysis suggested net benefit over test-none, and over test-all above an 11% threshold.

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Conclusion · 1 of 3

This preliminary, internally validated score may help prioritize MLPA referral in children with microcytosis and performs best for clinically significant two-gene genotypes.

Conclusion · 2 of 3

Because HBA1/HBA2 sequencing was not routinely performed, a low score does not exclude alpha-thalassemia, particularly non-deletional forms. External prospective validation is required before clinical adoption.

Conclusion · 3 of 3

WHAT IS KNOWN: • Alpha-thalassemia has no HbA2-like hematological marker, so carrier detection depends on molecular testing.

A clinical triage score for MLPA testing in children with microcytosis suspected of deletional alpha-thalassemia.

A clinical triage score for MLPA testing in children with microcytosis suspected of deletional alpha-thalassemia.

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