Risk Stratification-Based Therapy for Children with E-beta Thalassemia: A 20-Year Follow-Up Study

To present risk stratification-based follow-up of children with E-beta thalassemia.

Children with E-beta thalassemia between August 2002 and August 2022 were classified as mild, moderate, or severe disease using Mahidol scoring. Children in the moderate group with < 20 or ≥ 20 nucleated red blood cells (nRBCs) per 100 white blood cells were clubbed with mild or severe phenotype, respectively. Children with mild/moderate severity received hydroxyurea (HU) and those with severe disease received regular transfusions.

Out of 104 children (median age of onset 3.5 years), 30 (29%), 46 (44%), and 28 (27%) were categorized as mild, moderate, and severe disease, at initial presentation. Based on nRBC count, 27 and 19 children in moderate category were recategorized as mild to moderate and moderate to severe. Fifty-six, 19, and 29 children received HU, transfusions with HU, and monthly transfusion and chelation, respectively. At a median follow-up of 8 years, 67/93 (72%) children classified as "mild to moderate" remained well on HU, and 26/93 (28%) children classified as "moderate to severe" remained on regular transfusions.

Using nRBCs in addition to Mahidol scoring can serve as a useful tool to individualize therapy.