Characterization of a Double Heterozygote HbE/β+ Thalassemia IVS 1-1 GT in a Juvenile Diabetic

摘要

The present case report describes the molecular and proteomic based study of Hb variant HbE associated with β⁺ thalassemia IVS 1-1 G>T, in a juvenile diabetic patient. Given the ethnic origin and mobility of the variant hemoglobin at alkaline pH, HbE would be suspected. But hematologically and clinically abnormality being detected, HPLC and Electrophoresis not being able to characterize due to retention time and band being in region of HbA2, respectively, further characterization of hemoglobinopathy was made using MALDI and IVS 1-1 G>T being validated by reverse dot blot hybridization. Capillary electrophoresis was also employed in order to separate HbE and HbA2 bands. This case report being first of its kind, wherein a HbE/β⁺ thalassemia has been characterized using multiple techniques.