Alpha-thalassaemia (Hb-Bart's) in Rajasthan (India)

Area of Science:

• Medical Genetics
• Hematology
• Public Health

Background:

• Alpha-thalassaemia is a common inherited blood disorder.
• Screening for haemoglobinopathies like alpha-thalassaemia is crucial for early diagnosis and management.
• The Aravali hilly region of Rajasthan has diverse tribal and caste populations with varying genetic predispositions.

Purpose of the Study:

• To determine the prevalence of Hb-Bart's (alpha-thalassaemia) in newborns from the Aravali hilly region of Rajasthan.
• To investigate the incidence of alpha-thalassaemia genes across different caste groups (scheduled tribes, scheduled castes, general castes).

Main Methods:

• Electrophoretic analysis of 1,647 cord blood samples from newborns.
• Categorization of samples based on caste: scheduled tribes (618), scheduled castes (487), and general castes (542).
• Quantification of Hb-Bart's percentage in affected neonates.

Main Results:

• Hb-Bart's was detected in 31 neonates (1.88% incidence), comprising 1.46% with alpha-thalassaemia 1 and 0.42% with alpha-thalassaemia 2.
• The overall incidence of alpha-thalassaemia genes was 1.88%, with variations across populations: 3.07% in scheduled tribes, 1.43% in scheduled castes, and 0.77% in general castes.
• No other mutant haemoglobins were identified besides the Hb-Bart's allele.

Conclusions:

• Alpha-thalassaemia is prevalent in the studied neonatal population of Rajasthan, with a higher burden in scheduled tribes.
• The findings highlight the importance of newborn screening for haemoglobinopathies in this region.
• Further research into the genetic epidemiology of thalassaemia in diverse Indian populations is warranted.