Hb Famagusta—analysis of a novel δ-globin chain variant [HBD:c.60C>A] in four families with diverse globin genotypes

The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study

“…Nine structural variants concerning the β-globin chains and three concerning the α-globin chains have been identified, with the most common being Hb S (0.2%), Hb D-Punjab (0.02%), Hb Lepore Boston-Washington (0.03%) for the β-globin chain and Hb Setif (0.1%) for the α-globin chain. Recently, a novel δ-globin chain variant (Hb A 2 -Famagusta) was discovered in four distinct families in Cyprus 23 , while other δ-globin variants have been observed in the past 21 , with Hb A 2 -Yialousa being the most prevalent.…”

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

“…Predicted and observed consequences of the amino-acid substitution HBD:c.428C > T is the mutation closest to the 3 ′ end of the δ-globin gene yet reported in Cyprus [15], positioning the affected amino-acid at the transition of the final α-helix of δ-globin towards the flexible carboxy-terminus. The predicted A > V amino-acid change from one non-polar, uncharged aliphatic side chain to another maintains the predicted isoelectric point (pI) of 7.42 for the resultant variant δ-globin (see Table 2) [12], in contrast to the HBD:c.428C > A mutation underlying HbA 2 Fitzroy [14], which results in an A > D aminoacid change and a predicted pI of 6.87.…”