Hb A2 Episkopi – a novel δ-globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot–Lebanese descent

@article{Lederer2017HbAE,
  title={Hb A2 Episkopi – a novel $\delta$-globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot–Lebanese descent},
  author={Carsten Werner Lederer and Eleni Pavlou and George A. Tanteles and Paola Evangelidou and Carolina Sismani and Annita Kolnagou and Maria Sitarou and Soteroulla Christou and Michael Hadjigavriel and Marina Kleanthous},
  journal={Hematology},
  year={2017},
  volume={22},
  pages={304 - 309}
}
ABSTRACT Objectives: Thalassaemia is a potentially lethal inherited anaemia, caused by reduced or absent synthesis of globin chains. Measurement of the minor adult haemoglobin Hb A2, combining α- with δ-globin, is critical for the routine diagnosis of carrier status for α- or β-thalassaemia. Here, we aim to characterize a novel δ-globin variant, Hb A2 Episkopi, in a single family of mixed Lebanese and Cypriot ancestry with mild hypochromic anaemia and otherwise normal globin genotype, which… 
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