Integrative Cellular and Hematological Profiling: Phenotypic Microcytic Variations and Genetic Heterogeneity Implications in a Mediterranean Libyan Population

Abstract

Background & Objectives: Microcytosis (MCV < 80 fL) represents a key hematological feature across Mediterranean populations, reflecting underlying genetic heterogeneity such as beta-thalassemia trait (beta-TT}) or iron deficiency anemia (IDA). This study aimed to generate an integrative cellular profile evaluating erythrocytic microcytic variations and their prospective genetic traits within a healthy cohort from Tocra, Libya. Methods: Automated complete blood counts (CBC) and ABO/Rh immunogenetic profiling performed on 101 healthy adults (50 males, 51 females; age range 15–55 years). Independent Student's t-tests and Chi-square (X2) analyses executed to evaluate sex-dependent variations and phenotypic associations. Results: Microcytosis was identified in 20.79% (n = 21) of the cohort, showing a significantly higher occurrence in females (61.9%, n = 13) than in males (38.1%, n = 8). Microcytic individuals exhibited markedly lower mean values for Hemoglobin (12.22 ± 1.48 g/dL vs. 13.91 ± 1.54 g/dL, p < 0.001), Hematocrit (33.68 ± 3.12% vs. 38.92 ± 4.01%, p < 0.001), MCV 74.92 ± 3.81 fL vs. 83.84 ± 3.72 fL, p < 0.001), and MCH 26.11 ± 2.15 pg vs. 31.05 ± 1.89 pg, p < 0.001). Phenotypic ABO frequency distribution demonstrated high proportions of group O (42.57%) and group A (35.64%), with Rh-positivity standing at 85.15%. No statistically significant correlation established between ABO/Rh phenotypes and microcytic status (p > 0.05). Conclusion: The notable prevalence of microcytosis in non-anemic healthy adults underscores silent genetic heterogeneity, pointing toward a high frequency of asymptomatic beta-thalassemia carriership. These findings highlight the need for primary molecular screening pipelines for hemoglobinopathies across Eastern Libya.