Details

Autor(en) / Beteiligte

• Pirastru, Monica
• Mereu, Paolo
• Trova, Sandro
• Manca, Laura
• Masala, Bruno

Titel

A new unstable variant of the fetal hemoglobin HBG2 gene: Hb F-Turritana [Gγ64(E8)Gly→Asp, HBG2:c.194G>A] found in cis to the Hb F-Sardinia gene [Aγ(E19)Ile→Thr, HBG1:c.227T>C]

Ist Teil von

• European journal of haematology, 2014-06, Vol.92 (6), p.510-513

Ort / Verlag

England: Blackwell Publishing Ltd

Erscheinungsjahr

2014

Quelle

Wiley Online Library Journals Frontfile Complete

Beschreibungen/Notizen

• A new variant of the fetal hemoglobin (Hb) was observed in a newborn baby subjected to phototherapy due to jaundice, by means of electrophoretic and chromatographic techniques. The variant Hb resulted unstable by the isopropanol stability test. After HBG2 gene sequencing, the G to A transversion at codon 64, position eight of the E helix, was found, which corresponds to the Asp for Gly amino acid substitution. The new variant was called Hb F‐Turritana [Gγ64(E8)Gly→Asp, HBG2:c.194G>A]. Incoming aspartic acid residue, bulky and negatively charged, may be responsible for alteration of the heme pocket steric configuration and for instability. The new abnormal HBG2 gene was found to be associated in cis with the mutated HBG1 gene, which characterizes the Hb F‐Sardinia [Aγ (E19)Ile→Thr, HBG1:c.227T>C] variant.