A Clinico-Haematological study of hemoglobin E disease and trait

Pragya Bhargava, Debashish Datta, Shubhodeep Bhattacharjee

Abstract


Introduction: HbE (Haemoglobin E) is one of the most important and common haemoglobinopathy. Its definitive diagnosis can be made on capillary electrophoresis. Our study aimed to analyze the clinico-haematological profile of patients having haemoglobin E disease and trait, including findings on capillary electrophoresis and iron profile. Materials and Methods: The samples were taken from patients who were referred to the haematology section of Department of Pathology, Silchar Medical College from January 2013 to December 2013. These patients were suspected of having haemoglobinopathy based on Peripheral Blood Film and Complete Blood Count. Study of complete haematological, eletrophoretic (by Capillary electrophoresis) and iron profile of the patients was done. Result: In our study, abnormal haemoglobins were detected in 61 out of the 100 cases examined, out of which HbE was detected in 45 cases. These patients presented with an asymptomatic to symptomatic phenotype, a decrease in mean corpuscular volume , microcytosis and target cells , a normal iron profile and increased HbE as well as HbA2 (Haemoglobin A2) levels on Capillary electrophoresis. Conclusion: Haemoglobin E constitutes an important haemoglobinopathy in lower Assam. An important finding was raised HbA2 (usually <6% on) capillary electrophoresis due to the β-thalassemic nature of HbE mutation. It needs to be differentiated from double heterozygous HbE-β thalassemia cases, as they also have elevated HbA2 levels (usually >6%) along with raised HbF levels. Therefore a proper diagnosis is essential so that preventive measures could be undertaken to reduce the burden of this haemoglobinopathy.

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References


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