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

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion
Aditi Baruah, Mrinal Kumar Baruah


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 ...Continue Reading


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