Clinical profile and management of HbE-β thalassemia in children: Experience from a tertiary care center in North India

Background: Eβ Thalassemia is characterized by clinical heterogeneity ranging from Non-Transfusion Dependent Thalassemia (NTDT) to Transfusion Dependent Thalassemia (TDT) state, causing management challenges for the clinicians, especially in the pediatric population. Therefore, this study was conducted to give an overview of the clinical profile and management in a tertiary care center. Materials and Methods: This is a retrospective observational study on the clinical profile of 48 patients with Eβ Thalassemia, after ethical approval. Clinical and biochemical parameters of enrolled patients were entered in pre-designed proforma. The clinical phenotypes of these patients were classified based on the Sripichai scoring system. Results: The mean age of subjects at presentation was 3.3±2.8 years (M: F=3.8:1). On presentation, 25 (52.02%) patients had severe disease. Their mean age and initial mean hemoglobin at diagnosis were 2.5±1.3 years and 4.9±0.8 g/dl, respectively. They had a relatively larger spleen (p=0.16) and liver size (p=0.67). They were treated as TDT. Twenty-three patients were managed as the NTDT group at baseline. During follow-up period 19 out of 23 patients in the NTDT group (82.6%) were continued to be managed as the NTDT whereas the other four out of 23, required regular transfusion for a short duration. Serum Ferritin was <1000 ng/l in 78 % of patients in NTDT group as compared to 48% in TDT group (p<0.05). Endocrine complications were present 8% in the TDT group. Correlation of severity of clinical manifestation and laboratory findings were done using Chi-square test and T-test. Conclusion: In the present study, the proper standardized classification of disease severity, helped in the management of these patients. It was found that detailed clinical knowledge regarding the pathophysiology, genetic modifiers, and complications along with close and careful monitoring of these patients based on clinical scores helps the pediatricians to classify these patients for their appropriate management.