Erythroblast cell expansion as a marker for disease severity in β⁰-thalassemia/Hb E disease

Abstract

β⁰-Thalassemia/Hb E disease is extremely common in many parts of Southeast Asia. In Thailand, there are believed to be approximately 100,000 people living with this disease which can present as a life threatening anemia syndrome dependent on regular blood transfusions. Determination of the state of presentation of the disease (mild, moderate or severe) is based upon a number of clinical and hematological parameters and currently, there is no accurate predictive methodology to gauge the final severity of the disease in a particular patient. While erythropoiesis, the process generating red blood cells, takes place in the bone marrow, sufficient circulating erythroid progenitor cells are found in the peripheral blood circulation to provide materials for analysis. In this study, the expansion of isolated erythroid progenitor cells was analyzed in culture and the level of expansion assessed in relation to disease severity. A clear statistically significant relationship between erythroid progenitor expansion and disease severity was observed, providing for the first time a potential predictive marker for disease severity for β⁰-thalassemia/Hb E disease.

Key words: β-Thalassemia, biomarker, erythroblasts, hemoglobin E, severity.