Keywords : whole exome Sequencing
European Journal of Molecular & Clinical Medicine,
2022, Volume 9, Issue 6, Pages 725-734
A 10 month old presented with the symptoms of jaundice and fever since 1 week. Routine investigations reveleaed hemolytic anemia and CE-HPLC & Whole exome Sequencing confirmed the diagnosis of compound heterozygous condition of Haemoglobin E-Beta thalassemic disease.