title: Hemoglobin E Hemoglobinopathy in an Adult from Assam with Unusual Presentation: A Diagnostic Dilemma.
abstract: Hemoglobin E (HbE) is estimated to affect at least one million people around the world. Carrier frequency of hemoglobin E/β-thalassemia (HbE/β-thalassemia) is highest in Southeast Asia, reaching as high as 60% in parts of Thailand, Laos, and Cambodia. In the Indian subcontinent, highest frequency is observed in The Northeast regions, but relatively rare in rest of the country. Increasing migration of population from highly affected areas is resulting in rising prevalence in The South and other parts of India. HbE/β-thalassemia is characterized by marked clinical diversity, phenotypic instability, and age-related changes in adaptation to anemia. This paper reports a case of HbE disease in an adult immigrant from Assam and documents the difficulties encountered in the definitive subtyping of HbE hemoglobinopathy. Distinguishing between homozygous HbE disease and HbE/β-thalassemia is a challenge to hematopathologist as both are clinically and hematologically similar.
authors.affiliation: Kiran Diagnostic Centre, Bengaluru, Karnataka, India.
authors.forename: Sunitha S
authors.initials: SS
authors.lastname: Kiran
authors.affiliation: Sri Krishna Specialist Care Center, Bengaluru, Karnataka, India.
authors.forename: Saraswathy
authors.initials: S
authors.lastname: Aithal
authors.affiliation: Department of Pathology, Sri Siddhartha Medical College, Tumkur, Karnataka, India.
authors.forename: Charalingappa S
authors.initials: CS
authors.lastname: Belagavi
keywords: Adaptation to anemia; clinical diversity; hemoglobin E/β-thalassemia; phenotypic instability