Mutational Spectrum of ?-Thalassaemia of Northern part of Odisha, India

Abstract


Nibarana Satapathy and Bisnu Prasad Dash

Prevention of β thalassaemia requires knowledge for diagnosing the molecular analysis in the population
at risk. This knowledge is particularly necessary when prevention control is applied to a multiethnic
population. For this purpose, we are analyzing different populations from northern part of Odisha, India.
During the study, we encountered about 98 patients from District Head Quarter Hospital of Mayurbhanj
and Balasore district of Odisha. Molecular analysis of β gene mutation were showing that population
showing IVS I-5(G-> C), cd 41/42(-CTTT), cd 8/9(+G), IVS I-1(G->T), cd 15(G->A), cd 30(G->C) as well as 619
bp deletion. In most cases, we found the IVS 1-5(G-> C) mutation and cd 41/42(-CTTT) mutation. The novel
619 bp deletion is the first report being analyzed in northern part of Odisha. The patient’s age group more
prevalence in between 0 - 15 years and their hematological parameters were recorded.
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