A medical student with undiagnosed HbE-beta thalassemia and cholelithiasis

• Main Authors: Kamaruzaman, Nor Azam, Ibrahim, Siti Shahirah Nadiah
• Format: Article
• Language: English
• Published: Malaysian Medical Association (MMA) 2024
• Subjects: RC633 Specialties of Internal Medicines- Diseases of The Blood and Blood-forming Organs. Hematologic Diseases
• Online Access: http://irep.iium.edu.my/112252/1/112252_A%20medical%20student%20with%20undiagnosed%20HbE-beta.pdf; http://irep.iium.edu.my/112252/; https://mjmcasereports.org/

HbE/β- thalassaemia is the most common form of βthalassaemia. The clinical presentation of HbE thalassaemia is heterogeneous, symptomatic individuals may vary significantly, while the onset can occur later in adulthood. This report illustrates a medical student with a long history of anaemia who finally got his diagnosis right after he was noticed to have jaundice and pallor by a physician. He also developed cholelithiasis as a complication due to his poor health-seeking behaviour, even though he is studying medicine. Therefore, early diagnosis of thalassaemia, including the genotype and proper management, is vital as this condition might be noticed and progress with the proper investigation and intervention.