A Novel Algorithm Using Cell Population Data (VCS Parameters) as a Screening Discriminant between Alpha and Beta Thalassemia Traits.

Angeli Ambayya,Jameela Sathar,Thoo Wei Yang,Rosline Hassan,Santina Sahibon,Qian-Yun Zhang

doi:10.3390/diagnostics11112163

Abstract

Thalassemia is one of the major inherited haematological disorders in the Southeast Asia region. This study explored the potential utility of red blood cell (RBC) parameters and reticulocyte cell population data (CPD) parameters in the differential diagnosis of α and β-thalassaemia traits as a rapid and cost-effective tool for screening of thalassemia traits. In this study, a total of 1597 subjects (1394 apparently healthy subjects, 155 subjects with α-thalassaemia trait, and 48 subjects with β-thalassaemia trait) were accrued. The parameters studied were the RBC parameters and reticulocyte CPD parameters derived from Unicel DxH800. A novel algorithm named αβ-algorithm was developed: (MN-LMALS-RET × RDW) − MCH) to discriminate α from β-thalassaemia trait with a cut-off value of 1742.5 [AUC = 0.966, sensitivity = 92%, specificity = 90%, 95% CI = 0.94–0.99]. Two prospective studies were carried: an in-house cohort to assess the specificity of this algorithm in 310 samples comprising various RBC disorders and in an interlaboratory cohort of 65 α-thalassemia trait, and 30 β-thalassaemia trait subjects to assess the reproducibility of the findings. We propose the αβ-algorithm to serve as a rapid, inexpensive surrogate evaluation tool of α and β-thalassaemia in the population screening of thalassemia traits in geographic regions with a high burden of these inherited blood disorders.

Highlights

Thalassaemia and haemoglobin variant disorders occur widely worldwide, with an estimation of 7% of the world population being carriers, as reported by the World HealthOrganisation (WHO) [1]
We explored the potential utility of reticulocyte cell population data (CPD) and aimed to construct an algorithm that could serve as a rapid tool and an inexpensive surrogate method for the discrimination of α- and β-thalassaemia traits in populationbased thalassemia screening programs held in Malaysia and in other countries with a high burden of these red cell disorders
Post hoc tests, and the diagnostic performance was determined by Receiver Operating Characteristic (ROC) analyses, as summarised in Supplementary S2

Summary

Introduction

Thalassaemia and haemoglobin variant disorders occur widely worldwide, with an estimation of 7% of the world population being carriers, as reported by the World HealthOrganisation (WHO) [1]. Thalassaemia and haemoglobin variant disorders occur widely worldwide, with an estimation of 7% of the world population being carriers, as reported by the World Health. In. Malaysia, thalassaemia is the commonest single gene disorder characterised by defects in synthesising one or more globin chains [2]. Malaysian Thalassaemia Registry (2009) revealed that 3310 out of 4541 registered patients consist of transfusion-dependent β-thalassaemia major and HbE/β-thalassaemia patients [4]. Clinical management of these patients includes transfusion, iron chelation therapy, and haematopoietic stem cell transplantations, which are expensive and a burden

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Discussion

Conclusion