In:
European Journal of Haematology, Wiley, Vol. 92, No. 6 ( 2014-06), p. 510-513
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 HBG 2 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 [ G γ64(E8)Gly→Asp, HBG 2: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 HBG 2 gene was found to be associated in cis with the mutated HBG 1 gene, which characterizes the Hb F‐Sardinia [ A γ (E19)Ile→Thr, HBG 1 :c.227T 〉 C] variant.
Type of Medium:
Online Resource
ISSN:
0902-4441
,
1600-0609
DOI:
10.1111/ejh.2014.92.issue-6
Language:
English
Publisher:
Wiley
Publication Date:
2014
detail.hit.zdb_id:
2027114-1
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