Spectrum of Haemoglobinopathies Diagnosed by Cation Exchange-Hplc & Modulating Effects of Nutritional Deficiency Anaemias from North India (Report)
The laboratory diagnosis of thalassaemias and other haemoglobinopathies can be achieved by a step-wise approach starting with a detailed clinical history, thorough haematologic evaluation [including haemoglobin level, complete blood count (CBC), reticulocyte count, and red blood cell (RBC) morphology], protein based analytic methods [alkaline and acid Hb-electrophoresis, isoelectric focusing (IEF) and high performance liquid chromatography (HPLC)] and nucleic acid based methods [such as polymerase chain reaction (PCR), reverse transcriptase (RT)-PCR, and sequencing of genomic DNA] (1,2). Family studies also play a crucial role in clinching the diagnosis in certain problematic cases. The aim of the present study was to evaluate the role of cation exchange HPLC (CE-HPLC) along with adjunctive tests as needed in the diagnosis of thalassaemias/haemoglobinopathies and to see the profile of these in the indigenous population. It is especially important to validate the role of HPLC, as it is less labour intensive with rapid turn around time and better reproducibility compared to Hb electrophoresis. Moreover, it can replace tedious procedures like estimation of foetal haemoglobin and [HbA.sub.2] quantitation by column chromatography. We also tried to evaluate the effect of nutritional deficiency anaemia, especially iron deficiency anaemia (IDA), on the level of [HbA.sub.2] in non-thalassaemia subjects and if the change was sufficient enough to confound the diagnosis of [beta]-thalassaemia trait.