Hemoglobinopathy in India

Area of Science:

• Genetics and Molecular Biology
• Hematology
• Public Health

Background:

• Heritable hemoglobin disorders arise from variations in hemoglobin structure and globin chain number.
• Detection of hemoglobinopathies is epidemiologically significant in India due to its multicultural and geographically diverse population.
• Co-existence of heterozygous hemoglobin mutants can lead to adverse health conditions.

Purpose of the Study:

• To provide an overview of the prevalence of different hemoglobinopathies among Asian Indians.
• To analyze a large cohort for hemoglobin variants across all regions of India.

Main Methods:

• High-performance liquid chromatography (HPLC) was used to analyze 25,297 samples.
• Capillary electrophoresis (CE) was employed to analyze 21,219 samples.
• Both HPLC and CE were utilized for variant detection.

Main Results:

• HPLC detected 8029 hemoglobin variants, with HbS trait being the most frequent (33.03%), primarily in the Chhattisgarh region.
• CE detected 6524 variants, with HbS trait also being the most common mutation (25.67%).
• A total of 40 variants, including compound heterozygous cases, were identified by both methods.

Conclusions:

• This study reports on the spectrum of hemoglobin variants in India based on a large cohort analysis.
• The findings contribute to the understanding of hemoglobinopathies in the diverse Indian population.