Sarita Anil Shinde; Anita Deepak Deshmukh; Umesh Kisanrao More
Abstract
The most prevalent hemoglobinopathy is sickle cell disease, which is followed by β-thalassemia and thalassemia syndrome. The Mediterranean region, Middle East, Indian subcontinent, ...
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The most prevalent hemoglobinopathy is sickle cell disease, which is followed by β-thalassemia and thalassemia syndrome. The Mediterranean region, Middle East, Indian subcontinent, South east Asia, and the northern coast of Africa have been found to have the highest prevalence of both diseases. The majority of affected youngsters in many of these regions pass away before turning five without ever receiving a diagnosis. Our understanding of hemoglobinopathies' clinical and therapeutic features as well as their laboratory diagnosis has increased as a result of several study articles. Erythrocyte index, hemoglobin analysis by HPLC and capillary electrophoresis, and recently employed next-generation sequencing (NGS) to screen for thalassemia are the main biochemical and molecular procedures used in clinical laboratories. Preventive treatment and genetic counselling can be performed when SCD is detected and diagnosed early, which helps to lower mortality and minimize sequelae. Current diagnosis procedures are laboratory-based and call for expensive diagnostic tools and qualified employees. India has a vast population, making it impossible for them to pay for traditional diagnostics. The primary benefit of POCT is its low cost, and its effect on hemoglobinopathies may ultimately contribute to the improvement of India's health situation and other relevant fields.
