Randomized genetic polymorphism analysis of sickle cell disease patients in a tertiary care teaching hospital Bhubaneswar

Abstract

Sickle cell disease or HbSS genotype is associated with the most severe, most frequent pain and shortest life expectancy. However, the genetic modifiers play a very important role which result in extremely diverse clinical severity. This study is intended to analyse the hereditary polymorphism in 25 patients diagnosed as Sickle cell disease (SCD) presenting in a tertiary care hospital of Eastern India. The subjects were diagnosed as SCD based on clinical examination, hematological investigation, hemoglobin electrophoresis, parental screening by Hemoglobin electrophoresis and molecular diagnosis. Blood samples from 25 patients of diagnosed SCD were analysed. The whole DNA isolation was pursued and gene specific PCR amplification were performed. The amplified products were purified and sequencing was done. From the sequence information, the phylogenetic examination and sequence connected study was performed. The outcomes demonstrated a specific single band in 25 DNA amplified PCR item after agarose gel electrophoresis. The phylogenetic examination uncovered that some of the sequence were highly diverse and some of them also found in a single monophyletic clades. The sequence information linked with the goblin chain can be utilized in various fundamental and applied research in sickle cell anemia and furthermore in other hemoglobinopathies.