[Associations of red blood corpuscle mean volume and hematocrit with severity of beta-globin gene mutations in beta-thalassemia carriers]

ABSTRACT

Thalassemia, a heterogeneous disease, is one of the most common single-gene diseases worldwide. The aim of this study was to find associations between hematological indices and severity of beta-globin gene mutations in beta-thalassemia carriers. In this cross-sectional study, 30 beta-goblin gene mutations [beta[+] and beta°] in 1206 unrelated beta-thalassemia carriers were investigated. In addition, their hematological indices, including CBC and electrophoresis results, were determined. The association between genetic findings and hematological parameters [mean corpuscular volume [MCV] and mean hematocrit corpuscular hematocrit [MCH]] were determined using the SPSS software, the statistical test being the t-test. The results indicated that beta[+]-thalassemia carriers had higher MCV and MCH means than beta°-thalassemia carriers. These findings would certainly have practical implications in public health. The results show a significant correlation between two hematological indices and certain types of mutations in beta-thalassemia carriers