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Dr Siddhartha Gupta, Soma Gupta
Department: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