Mean reticolocyte hemoglobin content index plays a key role to identify children who are carriers of β-thalassemia

Reticulocyte (r) and red blood cell (RBC) indices provide reliable parameters for screening and monitoring iron deficiency anemia (IDA) patients and β-thalassemia trait (BTT) carriers. The aim of this study is to identify a simple method for use to distinguish β-thalassemia trait carriers from IDA and to evaluate the correlation between BTT genetic mutation and MCV values and new discrimination index for the detection of β-thalassemia trait (DI-BTT). We analyzed CHr, MCHCr, MCVr, RBC, mean cellular hemoglobin concentration (MCHC) and mean cellular volume (MCV) indices among a pediatric population of IDA patients (n=90), β-thalassemia trait carriers (n=72) and normal controls (NC) (n=131). Furthermore, to distinguish IDA patients from β-thalassemia trait carriers we evaluated clinical utility of new DI for the detection BTTcarriers, using the following polynomial: (RBC × MCHC × 50/MCV)/CHr. We found that CHr, MCVr and DI-BTT mean values were significantly different between β-thalassemia trait carriers and IDA patients. CHr, MCVr and DI-BTT plotting curves showed exclusive distribution in β-thalassemia trait carriers. Moreover, DI-BTT was very accurate in differentiating β-thalassemia trait carriers from IDA patients. All BTT patients showed a heterozygous mutation of the β-globin gene including CD39, IVS1.110, IVS1.6 and IVS2.745, IVS2.1 and IVS1.1. The highest MCV values were displayed by those carrying the IVS1.6 mutation.

Conclusions: The simultaneous measurement and plotting of CHr and MCVr indices, as well as the DI-BTT allow to distinguish β-thalassemia carriers from IDA patients.