Hb F-Avellino [Gγ41(C7)Phe → Leu; HBG2: c.124 T > C]: A New Hemoglobin Variant Observed In A Healthy Newborn.
Articolo
Data di Pubblicazione:
2016
Citazione:
Hb F-Avellino [Gγ41(C7)Phe → Leu; HBG2: c.124 T > C]: A New Hemoglobin Variant Observed In A Healthy Newborn / Pirastru, Monica; Mereu, Paolo; Trova, S; Masala, B; Manca, Laura. - In: HEMOGLOBIN. - ISSN 0363-0269. - 40:1(2016), pp. 26573261.61-26573261.63. [10.3109/03630269.2015.1106413]
Abstract:
Here we describe HbF-Avellino [Ggamma41(C7)Phe->Leu; HBG2: c.124 T4C], a new hemoglobin (Hb)variant observed in a healthy newborn. The proband’s hemolysate was found to be mildly
unstable by the isopropanol test. The occurrence of the variant was assessed by both
chromatographic and electrophoretic methods. DNA sequencing analysis of the Ggamma gene showed a T to C transition at codon 41 (TTC4CTC) corresponding to the Phe->Leu substitution. Normal functional properties have been hypothesized.
unstable by the isopropanol test. The occurrence of the variant was assessed by both
chromatographic and electrophoretic methods. DNA sequencing analysis of the Ggamma gene showed a T to C transition at codon 41 (TTC4CTC) corresponding to the Phe->Leu substitution. Normal functional properties have been hypothesized.
Tipologia CRIS:
1.1 Articolo in rivista
Keywords:
Hemoglobin (Hb) variant, Hb F-Avellino, Phe41(C7) residue, Gg-globin gene
Elenco autori:
Pirastru, Monica; Mereu, Paolo; Trova, S; Masala, B; Manca, Laura
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