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Review Article

Thalassaemia: Current Diagnostic Approach

Dr Siddhartha Gupta, Soma Gupta




Haemoglobin disorders are due to mutations and/or deletions in the ?-globin or ?-globin genes. ?thalassaemia is caused by deletions in ?-globin gene, while ?-thalassaemias are associated with decreased synthesis of ?-globin due to ?-globin gene mutations. Haemoglobinopathies involve structural defects in haemoglobin due to altered amino acid sequence in the ?- or ?-globin chains. If a patient is suspected to suffer from haemoglobin disorders from family history or routine blood count, electrophoresis and high performance liquid chromatography can be performed to establish the diagnosis. Information regarding molecular mechanisms of the diseases has aided the development of molecular genetic technologies. Prenatal diagnosis of the disease is important to reduce the burden of the disease. So an efficient screening of the population and a rapid molecular characterisation of the couple at risk are necessary


Thalassaemia, electrophoresis, high performance liquid chromatography (HPLC), genetic testing

Journal: Medical Glory Vol 4, Issue No 3, July-September, 2020


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