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

Pirastru, Monica and Mereu, Paolo and Trova, Sandro and Manca, Laura and Masala, Bruno Lucio (2014) A New unstable variant of the fetal hemoglobin HBG2 gene: Hb F-Turritana [Gγ64(E8)GlyAsp, HBG2:c.194G>A] found in cis to the Hb F-Sardinia gene [Aγ(E19)IleThr, HBG1:c.227T>C]. European journal of haematology, Vol. 92 (6), p. 510-513. ISSN 0902-4441. eISSN 1600-0609. Article.

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DOI: 10.1111/ejh.12277

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 [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)IleThr, HBG1:c.227T>C] variant.

Item Type:Article
ID Code:10368
Status:Published
Refereed:Yes
Uncontrolled Keywords:Fetal hemoglobin variant, Hb F-Turritana, γ-globin gene, unstable hemoglobin
Subjects:Area 05 - Scienze biologiche > BIO/10 Biochimica
Divisions:001 Università di Sassari > 01-a Nuovi Dipartimenti dal 2012 > Scienze Biomediche
Publisher:Blackwell / Wiley
ISSN:0902-4441
eISSN:1600-0609
Deposited On:24 Nov 2014 12:54

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