Detection of a Large Novel α-Thalassemia Deletion in an Autochthonous Belgian Family

@article{Heireman2019DetectionOA,
  title={Detection of a Large Novel α-Thalassemia Deletion in an Autochthonous Belgian Family},
  author={L. Heireman and A. Luyckx and Katrien De Schynkel and A. Dheedene and M. Delaunoy and Anne-Sophie Adam and B. Gulbis and J. Dierick},
  journal={Hemoglobin},
  year={2019},
  volume={43},
  pages={112 - 115}
}
Abstract α-Thalassemia (α-thal) is a common hemoglobinopathy mainly caused by deletion of one or both α-globin genes. We describe an autochthonous Belgian family diagnosed with α-thal trait. Molecular analysis revealed a novel large deletion of at least 170 kb between 226.68 kb (0.2 Mb) and 402.68 kb (0.4 Mb) from the telomere of 16p, leaving the subtelomeric region intact. The deletion includes both α-globin genes (HBA1 and HBA2) but also flanking genes possibly related to non hematological… Expand
2 Citations
ATR-16 syndrome: mechanisms linking monosomy to phenotype
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