Characterization and Clinical Assessment of a Peculiar Case of Hemolytic Anemia

Thalassemic diseases are characterized by a reduced (beta(+)) or absent (beta(0)) synthesis of the globin chains of hemoglobin (Hb) due to genetic mutations. beta-thalassemia was more frequent in the Mediterranean area, but now it is diffused worldwide. Three possible genetic forms can be distinguished: beta(0)/beta(0), the most severe (Cooley's disease); beta(0)/ beta(+) of intermediate severity; beta(+)/beta(+) associated with beta-thalassemia intermedia or minor. Recently, a clinical non-genetic classification has been proposed: transfusion-dependent thalassemia (TDT), requiring regular lifetime blood transfusions, and non-transfusion-dependent thalassemia (NTDT), requiring occasional transfusions to manage acute cases. In this report, we studied a patient whose blood count indicated a severe anemia but also showed thrombocytosis, leukocytosis, and an elevated number of nucleated red blood cells (NRBC). These altered blood parameters suggested initially a possible diagnosis of hemoglobinopathy or myeloproliferative syndrome. The molecular and genetic analyses demonstrated the presence of HbF (5.3%) and HbA2 (7.7%) and the presence of the homozygote mutation (IVS1.6T>C) in the beta-globin gene. According to these data, a diagnosis of beta-thalassemia intermedia form has been proposed. Nevertheless, the clinical condition, the presence of thrombocytosis, leukocytosis, an elevated number of NRBC, and disease.