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CC BY-NC-ND 4.0 · J Lab Physicians 2016; 8(02): 116-119
DOI: 10.4103/0974-2727.180793
Case Report

Hemoglobin E Hemoglobinopathy in an Adult from Assam with Unusual Presentation: A Diagnostic Dilemma

Sunitha S Kiran
Kiran Diagnostic Centre, Bengaluru, Karnataka, India
,
Saraswathy Aithal
Sri Krishna Specialist Care Center, Bengaluru, Karnataka, India
,
Charalingappa S Belagavi
Department of Pathology, Sri Siddhartha Medical College, Tumkur, Karnataka, India
› Author Affiliations Financial support and sponsorship: Nil.
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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.

Key words:

Adaptation to anemia - clinical diversity - hemoglobin E/β-thalassemia - phenotypic instability


Publication History

Article published online:
19 April 2020

© 2016.

Thieme Medical and Scientific Publishers Private Ltd.
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