Phenotypic Diversity and Clinico-Hematological Profile of Hb E-Beta Thalassemic Children

Abstract

Hb E-Beta thalassemia is a disease with marked clinical diversity. In this study, phenotypic diversity of Hb E-β thalassemia children were analysed by studying the clinical and hematological parameters. This was a cross sectional study done in one and a half year period in the department of Pediatrics of a tertiary care teaching hospital. Participants were 62 Hb E-β thalassemic children of age group 1 month to 18 years coming to the Thalassemia day care centre for blood transfusion. Data collected from history, examination findings and investigation reports were analyzed. M:F ratio was 1.07:1; 71% children were above 5 years of age. 90.3% children were Hindu. In 66.1% children, Hb level was below 5 gm/dl at the time of diagnosis. Mean HbF level was 32.6% ± 11.2. Stunting was seen in 64.5%. Average liver and spleen size were 2.5 and 4.4 cm respectively. Beside pallor, most common clinical findings were splenomegaly (93.5%), facial deformity (87%), dusky skin color (82.5%) and hepatomegaly (75.8%). 1.6% children were mild, 43.5% children were moderate and 54.8% children were of severe type. In our study there was no significant correlation between severity of the disease and HbF level (r = 0.0853, p = 0.0509). Age at the time of diagnosis, hemoglobin level at the time of first transfusion, age at receiving first blood transfusion, requirement of blood transfusion, spleen size and growth, are some factors affecting severity of the disease. But severity cannot be assessed by considering only one clinical or hematological parameter but by considering several parameters together.