HPLC in the diagnosis of Haemoglobinopathies and Thalassaemias
Journal Title: Medpulse International Journal of Biochemistry - Year 2017, Vol 1, Issue 2
Abstract
Problem statement: It is important to identify carriers of haemoglobin disorders in order to assess the risk of a couple having a severely affected child and to provide information on the options available to avoid such an eventuality. Ideally, screening should be performed before pregnancy. Preconception screening is directed at couples planning a pregnancy, while antenatal screening focuses on pregnant women. Common modes of prenatal diagnosis are Chorion villus sampling (CVS), amniocentesis and foetal blood sampling under ultrasonic guidance. Methods: The diagnosis of Haemoglobinopathies and Thalassaemias was Electrophoresis, both agarose gel and cellulose acetate electrophoresis were used. But now with advancing technology, the world wide reference method of Hb typing is HPLC or High Pressure Liquid Chromatography based upon the principles of Cation Exchange chromatography. It is a technique that offers fast and easy Thalassaemia testing along with simultaneous detection of the commonly occurring abnormal haemoglobins (Hb E, S, D and C). Results: Our experience and from a study done in M.G.M. Medical College and RMRC, ICMR Dibrugarh, shows similar findings, i.e. the most frequently observed haemoglobinopathy is Hb E followed by Hb S encountered in the tea garden labour community. According to the study conducted by RMRC, Dibrugarh the incidence of Beta Thal in N.E India is approximately 3.8%. Conclusion: The haemoglobin disorders are the most common clinically serious single gene disorders in the world. Most affected children are born in countries with limited resources where priority is given to tackling mortality from infections and malnutrition. Hereditary disorders receive little attention. The haemoglobin disorders are often regarded as incurable and hence “hopeless’ and expensive to treat. Thus prevention is always better in such a case and the burden thalassaemia places on families are a key driving force in establishing the prevention programmes.
Authors and Affiliations
Priakshi Baruah
Keywords
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