Skip to main content
padlock icon - secure page this page is secure

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]

Buy Article:

$59.00 + tax (Refund Policy)

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.
No References
No Citations
No Supplementary Data
No Article Media
No Metrics

Keywords: Hb F‐Turritana; fetal hemoglobin variant; unstable hemoglobin; γ‐globin gene

Document Type: Research Article

Publication date: June 1, 2014

  • Access Key
  • Free content
  • Partial Free content
  • New content
  • Open access content
  • Partial Open access content
  • Subscribed content
  • Partial Subscribed content
  • Free trial content
Cookie Policy
Cookie Policy
Ingenta Connect website makes use of cookies so as to keep track of data that you have filled in. I am Happy with this Find out more