Evaluation of β-Thalassaemia Cases for Common Mutations in Western Rajasthan

Area of Science:

• Medical Genetics
• Molecular Biology
• Hematology

Background:

• Beta-thalassaemia is a prevalent monogenic disorder with significant genetic diversity.
• Over 300 beta-globin gene mutations exist globally, but a few common mutations dominate in specific populations.
• Limited data exists on beta-thalassaemia mutations in Western Rajasthan.

Purpose of the Study:

• To screen for five common beta-globin gene mutations in known beta-thalassaemia cases in Western Rajasthan.
• To establish a basis for a diagnostic database for genetic counseling and prenatal diagnosis.

Main Methods:

• Study included 144 patients with various clinical phenotypes of beta-thalassaemia.
• Diagnosis confirmed by clinical features, hemogram, and Hb-HPLC.
• DNA extraction followed by polymerase chain reaction (PCR) with allele-specific priming (AMRS) to detect five specific mutations: IVS-I-5 (G→C), IVS-I-1 (G→T), CD41/42 (-TCTT), CD 8/9 (+G), and 619 bp deletion.

Main Results:

• Out of 144 cases, 74 were beta-thalassaemia major, 5 beta-thalassaemia intermedia, and 65 beta-thalassaemia minor.
• The five common mutations were identified in 130 (90.27%) cases.
• The most frequent mutation was IVS-I-5 (G→C), found in 73 cases (50.7%). Multiple mutations were detected in 11 cases (7.63%).

Conclusions:

• The five common beta-globin gene mutations are prevalent in Western Rajasthan.
• These findings support the development of a comprehensive diagnostic database for the region.
• This database will be crucial for effective genetic counseling and prenatal diagnosis of beta-thalassaemia.