Genetic Profile of Beta-Thalassemia and Sickle Cell Disease in Eastern Uttar Pradesh

Area of Science:

• Genetics
• Hematology
• Molecular Biology

Background:

• Beta-thalassemia and sickle cell disease (SCD) are significant public health concerns, particularly in certain regions of India.
• Understanding the spectrum of hemoglobin subunit beta (HBB) gene mutations is crucial for genetic counseling and diagnosis.

Purpose of the Study:

• To determine the prevalence of various HBB gene mutations in children diagnosed with beta-thalassemia and SCD.
• To identify common and novel HBB gene mutations in pediatric patients from Uttar Pradesh, Jharkhand, Chhattisgarh, and Bihar.

Main Methods:

• Genotyping of 133 children with beta-thalassemia and 23 children with SCD.
• Analysis of HBB gene mutations using molecular techniques.

Main Results:

• The IVS 1-5 mutation was the most prevalent (n=42).
• Mutations CD41/42 and CD8/9 were observed with equal frequency (n=4 each).
• Novel mutations, including c.47G>A, c.51del, and c.123delT, were identified in the Uttar Pradesh population.

Conclusions:

• The IVS 1-5 mutation is a dominant HBB gene mutation in the studied pediatric population.
• The identification of previously unreported mutations highlights the genetic diversity of hemoglobinopathies in the region.
• This data is vital for regional genetic screening programs and understanding disease burden.