Genetic Hemoglobin-related diseases are generated by abnormal changes in the moiety of the different globin genes. Hemoglobinopathy is induced by structural and quantitative defects of Hemoglobin. Due to the large-scale migration of people from endemic areas, the prevalence of hemoglobinopathy and thalassemia has increased globally and in India; consequently, awareness is necessary to control these diseases. Deletions in the α-globin genes result in α-thalassemia, while changes in the β-globin gene produce β-thalassemia. These mutations result in structural defects in Hemoglobin, which in turn causes the generation of Hemoglobinopathy. These mutations result from modifications to the α- or β-globin chains' amino acid sequence. The next paradigm is to detect hemoglobin genetic disorders utilizing mass spectrometry, electrophoresis, and high-performance liquid chromatography if the patient has an abnormal total blood count or is suspected of having haemoglobinopathy. This can be done based on the patient's medical history. In recent advances, new molecular techniques such as massively parallel sequencing are used to diagnose thalassemia or other hemoglobinopathies more precisely. Prevention of pregnancy complications along with thalassemia birth can be achieved using genetic testing. In this study, we have collected the data of 1368 patients from different districts of Southern Odisha and found 917 positive cases of Sickle Cell disease and 451 positive cases of Thalassemia. So, the research work aims to assess the current status of Hemoglobinopathy in the southern part of Odisha in terms of global and national scenarios.

Hemoglobinopathy, Genetic Disease, Thalassemia, Sickle Cell Anemia, Southern Odisha