Online ISSN: 2515-8260

Keywords : Beta-Thalassemia


CASE REPORT ON RARE CASE PRESENTATION OF HAEMOGLOBIN E-BETA THALASSEMIC DISEASE IN HYDERABAD, INDIA

Dr.Mounika Mummadi, Dr.Kiranmai Pammi ,Dr.Sarada Munagavalasa, Dr.Bhargavi Kareti, Dr.Sujatha Pasula, Dr.Tirumala Keerthi Chandrika K, Dr.Shilpa Reddy G, Dr.Srinivas Kalyan

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.