A novel beta-delta globin gene fusion, anti-Lepore Hong Kong, leads to overexpression of delta globin chain and a mild thalassaemia intermedia phenotype when co-inherited with beta(0)-thalassaemia.

Abstract excerpt

Anti-Lepore haemoglobins (Hb) are rare betadelta fusion variants that arise from non-homologous crossover during meiosis, resulting in a delta-betadelta-beta configuration. A novel anti-Lepore mutation (anti-Lepore Hong Kong) was found in two Chinese families with raised Hb A(2). Direct sequencin...

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