Abstract
We report a case of hemolytic anemia that was subsequently identified to be a case of α-thalassaemia harboring the common rightward 3.7 kb deletion/HbH. The diagnosis was based on sequential analyses using BioRad D10 HPLC, Alkaline gel electrophoresis, GPO α THAL-IC strips and the identification of the specific genetic lesion using an α Globin reverse dot blot hybridization assay. Supravital stain of RBCs helped in identifying classical HbH inclusions. In a background of a variable clinical presentation, lack of definitive hematological markers, and general under-diagnosis of α-thalassaemias we have used this case to highlight the features and sequence of techniques involved in identifying and characterizing an α-globin chain mutation, starting from a diffuse clinical history and presentation up to the identification of a specific genetic lesion involved.
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Bhat, V.S., Dewan, K.K. & Krishnaswamy, P.R. The Diagnosis of α-Thalassaemia: A Case of Hemoglobin H −α3.7 Deletion. Ind J Clin Biochem 25, 435–440 (2010). https://doi.org/10.1007/s12291-010-0053-7
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DOI: https://doi.org/10.1007/s12291-010-0053-7