Study of Thalassemia and Case Series Haemoglobinopathies in Pokhara, Nepal

Introduction: Presence of thalassemias and haemoglobinopathies are described in some communities especially from Terai belt. However, there are no any population based studies done till date, including other parts of Nepal. So, this study may indicate the presence of haemoglobin disorder in other parts of Nepal as well. Aim: This study was done to know the presence of Haemoglobin disorder in this part of Nepal. In addition, this study also focuses on the application of electrophoresis and densitometric quantification for easy and accurate determination of Haemoglobin disorder. Materials and Methods: In this cross-sectional study, a total of 45 blood samples of all age groups with mean corpuscular volume and mean corpuscular Haemoglobin less than 80 femtoliter (fL) and 27 picogram (pg) respectively, were analysed for Haemoglobin pattern and their quantification. The Haemoglobin electrophoresis and quantification of haemoglobin was performed by using automated Haemoglobin electrophoresis system (Genio S, Italy) in an alkaline medium. Results: Out of total 45 subjects, 42 subjects (93%) showed normal Haemoglobin patterns. Two subjects were suspected to have beta thalassaemia trait based on the Haemoglobin A2 (HbA2) level. One subject showed the heterozygote Haemoglobin E. In addition, automated haemoglobin electrophoresis and direct densitometric quantification is easy and accurate method for determining haemoglobin pattern rather than manual process. Conclusion: Haemoglobin disorders are also present in other parts of Nepal, like Pokhara. In addition, this quantitative method could be of great diagnostic value rather than classical comparative method.