Hemoglobin E Disease and Trait: A Clinico-Hematological Study in a Tertiary Care Centre

Introduction: Hemoglobin E (HbE) is the second most prevalent structural abnormality in hemoglobin (Hb), following sickle cell hemoglobin (HbS). Our aim is to assess the clinical and hematological characteristics HbE disease and trait, incorporating observations from High-performance liquid chromatography (HPLC) and iron profiles. Materials and Methods: The study was conducted in the department of hematology, from June 2022 to December 2023. Out of 264 individuals sampled for HPLC, based on their peripheral smear (PS) and complete blood count (CBC) findings, 36 individuals found to have HbE disease. This study involved a comprehensive analysis of the hematological parameters, HPLC findings, and iron profiles of individuals with HbE. Results: In our study, we found 14 cases with HbE trait and 22 cases with HbE disease, out of the 264 cases analyzed in HPLC. It included pregnant females who came for routine check-up as well as referred patients suspected to have hemoglobinopathies who showed a range of symptoms, along with normal or slightly increased red blood cell (RBC) count with decreased mean corpuscular volume (MCV), and presence of microcytic RBCs and target cells in PS. Their iron levels were within normal limits, and HPLC revealed elevated levels of HbA2. Conclusion: HbE disorders constitute a diverse range of diseases, experiencing a significant global rise especially in people of Assam. Normal or increased RBC count with low MCV on CBC, target cells and microcytosis on PS with a normal iron profile should raise a suspicion of HbE and further investigations like HPLC should be performed.