摘要：Background:Among the inherited disorders of blood, hemoglobinopathies and thalassemia constitute a major bulk of non-communicable genetic disease in India. Most commonly found abnormal hemoglobins in India are hemoglobin S (Hb S), hemoglobin E (Hb E) and hemoglobin D (Hb D). The distribution of Hb E (?2?226Glu?Lys) is mostly restricted to north-eastern India and it is relatively rare in rest of the country. Identification of this disorder is immensely important epidemiologically and aid in prevention of more serious hemoglobin disorder. Aims:Thepurpose of the study is to highlight importance of identification of Hb E disorders and prevention of doubly heterozygous state for Hb E and ?-thalassemia which may be falsely characterized clinically by thalassemia major. Material and Method:This study is a part of the work done under Sickle Cell Anemia Control Programme, under which samples are tested for various routine as well as specific tests such as dithionite tube turbidity test (DTT Test), hemoglobin electrophoresis and High Performance Liquid Chromatography (HPLC) to diagnose Sickle cell disorders along with other hemoglobinopathies. Result and Conclusion: Total 70308 cases were analyzed during the period ofJune 2007 to October 2011 out of these 35 cases of Hb E variant were identified. Among these 29 cases of Hb E trait, 1 case of Hb E disease and 5 cases of Hb E ?-thalassemia were identified. Hb E trait and Hb E disease were asymptomatic while 5 cases of Hb E ?-thalassemia were suffering from haemolytic anemia. Detection of this asymptomatic abnormal hemoglobin will help in the prevention of more serious doubly heterozygous hemoglobinopathy.
