Research Paper on Prenatal Screening and Awareness Program Profiling Thalassemia Mutations in Consanguinity and Nonconsanguinity

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Title: Prenatal Screening and Awareness Program Profiling Thalassemia Mutations in Consanguinity and Nonconsanguinity

Abstract: The mutation spectrum varies considerably across India’s various regions and ethnic groups. Consanguinity between first-degree relatives and preference for marriage within the community are social factors that have a significant impact on limiting the disease’s gene pool within the community and thus throughout society. The approach for prenatal screening and a program based on awareness and prevention is discussed in the present paper along with the role of consanguinity in the profiling of beta thalassemia mutation. 516 cases of beta thalassemia with a clinical diagnosis were examined at the molecular level. A thorough clinical Proforma was created and filled out with information about the family’s origin, race, and consanguinity. According to the current study, subjects from Uttar Pradesh, Uttarakhand, Bihar, and Jharkhand have the mutations c.92+5G>C and c.124 127delTTCT more frequently than those from Madhya Pradesh, Chhattisgarh, and Nepal, where the sickle mutation was more prevalent. More frequent and targeted beta mutations with higher homozygosity rates have been found in 40 consanguineous unions. This consanguinity-based data aids in developing objective-based awareness campaigns for the prevention of thalassemia major birth as well as target-oriented prenatal diagnostic strategies.

Paper Quality: SCOPUS / Web of Science Level Research Paper

Subject: Medicine

Sub Category: Hematology

Writer Experience: 20+ Years

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