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 [Gc64(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 [Ac (E19)Ile->Thr, HBG1:c.227T>C] variant.

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] / Pirastru, Monica; Mereu, Paolo; Trova, S; Manca, Laura; Masala, Bruno Lucio. - In: EUROPEAN JOURNAL OF HAEMATOLOGY. - ISSN 1600-0609. - 92:6(2014), pp. 510-513. [10.1111/ejh.12277]

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]

PIRASTRU, Monica;MEREU, Paolo;MANCA, Laura;MASALA, Bruno Lucio
2014-01-01

Abstract

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 [Gc64(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 [Ac (E19)Ile->Thr, HBG1:c.227T>C] variant.
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] / Pirastru, Monica; Mereu, Paolo; Trova, S; Manca, Laura; Masala, Bruno Lucio. - In: EUROPEAN JOURNAL OF HAEMATOLOGY. - ISSN 1600-0609. - 92:6(2014), pp. 510-513. [10.1111/ejh.12277]
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11388/61495
Citazioni
  • ???jsp.display-item.citation.pmc??? 1
  • Scopus 7
  • ???jsp.display-item.citation.isi??? 6
social impact