Association of diverse population of red blood cells with different disease manifestations in patients with beta-thalassemia

Different mutations in the beta-globin gene impose clinical heterogeneity in the affected individuals, such as patients with Hb E disease are asymptomatic and non-transfusion-dependent. Conversely, the transfusion-dependent patients with EBT require blood transfusion with varying degrees of transfusion intervals among individuals; whereas the patients with beta-thalassemia major (BTM) must require blood transfusion with chelation therapy. Different mutations are expected to affect red blood cell (RBC) volume and size differently as they impose different levels of heterogeneity. Thus, this present study focused to associate red blood cell distribution width (RDW) with different disease states of beta-globin gene. Accordingly, 31 patients with BTM, 73 transfusion-dependent patients with EBT, and 40 healthy controls were recruited. Hematological indices revealed higher RDWs in both BTM and EBT patients compared to controls. Hematological indices and genetic analysis revealed irrespective of mutational status EBT patients had higher RDWs compared to patients with BTM. Moreover, analysis of EBT patients with different transfusion intervals revealed patients who need blood transfusion less frequently had highest RDW values implying diverse population of microcytic RBCs play an important role in heterogeneous disease manifestations. In conclusion, the RDW has an association with different disease manifestations involving the beta-globin gene mutations.