AUTHOR=Marchesani Silvio , Di Mauro Margherita , Ceglie Giulia , Grassia Ginevra , Carletti Michaela , Cristofaro Rosa Carmela , Cossutta Matilde , Curcio Cristina , Palumbo Giuseppe 

TITLE=The blood count as a compass to navigate in the ever-changing landscape of the carrier state of hemoglobinopathies: a single-center Italian experience

JOURNAL=Frontiers in Pediatrics

VOLUME=Volume 11 - 2023

YEAR=2023

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2023.1228443

DOI=10.3389/fped.2023.1228443

ISSN=2296-2360

ABSTRACT=Results: We evaluated 65 patients: 9 patients with negative genetic analysis and 56 with positive genetic analysis. In this 2 groups hemoglobin (Hb) and Red blood cells Distribution Width (RDW) values didn't prove to be significant. On the other hand, mean corpuscular volume (MCV), red blood cells (RBC), reticulocyte count and mean corpuscular volume of reticulocytes (MCVr), were statistically significantly different in the two groups. Moreover, in the group of patients with positive genetic tests we observed specific genetic findings associated with different HPLC results, in particular 13 patients with positive genetic analysis had normal HPLC findings.Discussion: In this study we have shown that HPLC, although being a very useful first-level test, has some limitations and some patients have a negative HPLC despite having a positive genetic analysis. In addition to low levels of Hb and HPLC alterations, other parameters may be suggestive of underlying mutations in the globin genes. Therefore, we propose complete blood cell count as a widely available parameter to perform targeted genetic analyses to avoid not identifying rare hemoglobinopathies.