Online ISSN: 2515-8260

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

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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

Abstract

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. Reference words: HbE, Beta-Thalassemia, whole exome Sequencing, South India,

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