A new unstable variant of the fetal hemoglobin HBG2 gene: Hb F-Turritana [(G) γ64(E8)Gly→Asp, HBG2:c.194G>A] found in cis to the Hb F-Sardinia gene [(A) γ(E19)Ile→Thr, HBG1:c.227T>C].
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 [(G) γ64(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 [(A) γ (E19)Ile→Thr, HBG1:c.227T>C] variant.
Department of Biomedical Sciences and Center of Excellence for Biotechnology Development and Research on Biodiversity, University of Sassari, Sardinia, Italy.
Monica
M
Pirastru
Paolo
P
Mereu
Sandro
S
Trova
Laura
L
Manca
Bruno
B
Masala
D000483:Alleles; D019943:Amino Acid Substitution; D003062:Codon; D005319:Fetal Hemoglobin / Q000235:genetics* / Q000378:metabolism; D014644:Genetic Variation; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics; D055545:gamma-Globins / Q000235:genetics / Q000378:metabolism
D003062:Codon; D006455:Hemoglobins, Abnormal; D055545:gamma-Globins; D005319:Fetal Hemoglobin
Hb F-Turritana; fetal hemoglobin variant; unstable hemoglobin; γ-globin gene