Hemoglobinopathies Among Patients Referred to Single Centre in Central India: An Observational Study

Area of Science:

• Hematology
• Medical Genetics
• Public Health

Background:

• Sickle cell disease (SCD) and thalassemia are prevalent hereditary blood disorders in Central India.
• Early identification is crucial for managing severe manifestations and understanding disease burden.
• Hemoglobinopathies represent a significant public health challenge in the region.

Purpose of the Study:

• To investigate the spectrum of hemoglobinopathies among anemia patients referred to a central Indian center.
• To determine the prevalence of different hemoglobinopathies, including SCD and thalassemia.
• To identify demographic and tribal associations with specific hemoglobinopathies.

Main Methods:

• Screening of 13,587 individuals referred for diagnosis between January 2012 and August 2020.
• Utilizing hemoglobin electrophoresis or High-Performance Liquid Chromatography (HPLC) for hemoglobinopathy identification.
• Performing molecular characterization for rare or unknown variants.

Main Results:

• Sickle cell disease (SCD) was identified in 12% of patients; homozygous beta-thalassemia in 0.6%.
• Hereditary persistence of fetal hemoglobin (HPFH) or delta beta-thalassemia was found in 74 individuals.
• Over 50% of referred SCD patients were older than 12 years, with higher prevalence in Pradhan, Gond, and Baiga tribes.

Conclusions:

• High prevalence of hemoglobinopathies in Central India necessitates large-scale screening in at-risk communities.
• Targeted screening programs are essential for prevention and early intervention strategies.
• Understanding tribal distribution of these disorders aids in public health planning.