Hb F-Avellino [(G)γ41(C7)Phe → Leu; HBG2: c.124 T > C]: A New Hemoglobin Variant Observed In A Healthy Newborn.

doi:10.3109/03630269.2015.1106413

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Article

Hb F-Avellino [(G)γ41(C7)Phe → Leu; HBG2: c.124 T > C]: A New Hemoglobin Variant Observed In A Healthy Newborn.

Hemoglobin - 1 Jan 2016

Pirastru Monica, Mereu Paolo, Trova Sandro, Masala Bruno, Manca Laura

Abstract excerpt

Here we describe Hb F-Avellino [(G)γ41(C7)Phe → Leu; HBG2: c.124 T > C], 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 (G)γ gene showed a T to C transition at codon 41 (TTC > CTC)...

Topics

Amino Acid Substitution
Codon
Fetal Hemoglobin
Genetic Variation
Humans
Infant, Newborn
Point Mutation
gamma-Globins

Source

Open in PubMed

Identifiers

PMID: 26573261
DOI: 10.3109/03630269.2015.1106413

Genes

HBG2

Provenance

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