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Identification of rare and novel deletions that cause (δβ)0‐thalassaemia and hereditary persistence of foetal haemoglobin in Indian population

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Hereditary persistence of foetal haemoglobin (HPFH) and (δβ)0‐thalassaemia are conditions caused by large deletions that involve δ‐ and β‐globin genes in the β‐globin cluster, and they are characterized by increased haemoglobin (HbF) levels in adults. Significant phenotypic diversity is observed between the different mutations that cause these conditions. Molecular characterization of these deletions is important for accurate molecular diagnosis, and they will also provide the information on the cis‐acting genetic regulatory elements present in the β‐globin cluster.
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Keywords: (δβ)0‐thalassaemia; haemoglobin; hereditary persistence of foetal haemoglobin; mutation; β‐thalassaemia

Document Type: Research Article

Publication date: June 1, 2014

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