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

Abstract

Detection of the new variant depends on the diagnostic set-up and had failed by CAE and on an independent CE-HPLC system, which, in unfavourable circumstances, may lead to misdiagnoses of β-thalassaemia as α-thalassaemia. Given the mixed background of the affected family, the ethnic origin of the mutation is unclear, and this study thus suggests awareness for possible detection of Hb A Episkopi in both the Cypriot and the Lebanese populations.

Relative and Absolute Quantification of Aberrant and Normal Splice Variants in HBBIVSI−110 (G > A) β-Thalassemia

“…Research programs and protocols for the use of human hematopoietic stem cells were approved by the Cyprus National Bioethics Committee (Applications ΕΕΒΚ/ΕΠ/2012/02 “Advancing Gene Therapy Vectors for Thalassaemia,” ΕΕΒΚ/ΕΠ/2013/23 “ThalaMoSS” and ΕΕΒΚ/ΕΠ/2018/52 “βThal-GT4U”). All study participants gave written informed consent for research use of their blood samples and were tested for additional mutations in the HBA and HBB genes in line with routine laboratory procedures [ 34 ]. Participation in this study did not affect the treatment of study subjects.…”