Abstract

During neonatal period, the most common genetic disorder is haemoglobinopathy which leads to sickle cell disease or thalassemia. In the present study, we enumerate the haematological, anthropometric and puberty indices of three different variants of sickle-β-thalassemia such as HbS-β0-thalassemic, HbS-β+-thalassemic and HbS-β++-thalassemic with respect to severity of mutation of tertiary care hospital of Odisha. Standardised procedures were followed to analyse haematological and anthropometric parameters. For analysing puberty indices, Tanner staging chart was used. In the result, it is observed that there was a significant decrease in haematological parameter in the HbF, HbA2 (%) and HbS. Delay in growth (height for age and weight for age) also fluctuates according to the variant of HbS-β-thalassemia inherited by the participant. However, when puberty indices were analysed, significant delay of sexual maturation in stage-I scale in Tanner sexual maturity index chart was observed. Hence, out of the three variants, less growth was seen in the male and female participants of HbS-β0 thalassemia, decrease in BMI, thin frame size, decrease in body size, decrease growth of head and chest circumference than normal individual due to the marrow hyperplasia occurred in β-mutation in the locus control region of HBB gene.

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