A new unstable variant of the fetal hemoglobinHBG2gene: Hb F-Turritana [Gγ64(E8)Gly→Asp, HBG2:c.194G>A] foundin cisto the Hb F-Sardinia gene [Aγ(E19)Ile→Thr, HBG1:c.227T>C]
Author:
Affiliation:
1. Department of Biomedical Sciences and Center of Excellence for Biotechnology Development and Research on Biodiversity; University of Sassari; Sardinia Italy
Publisher
Wiley
Subject
Hematology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/ejh.12277/fullpdf
Reference14 articles.
1. A history of the human fetal globin gene duplication;Shen;Cell,1981
2. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies;Patrinos;Nucleic Acids Res,2004
3. Disorders of the synthesis of human fetal hemoglobin;Manca;IUBMB Life,2008
4. Detection of the common Hb F Sardinia [Aγ (E19)Ile→Thr] variant by isoelectric focusing in normal newborns and in adults affected by elevated fetal hemoglobin syndromes;Masala;Clin Chim Acta,1991
5. The γ-globin chain heterogeneity of the Sardinian newborn baby;Manca;Hemoglobin,1986
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2. Hb F-Wentzville [Gγ24(B6)Gly→Glu; HBG2: c.74G>A, p.Gly25Glu]: An Unstable Gγ-Globin Variant Associated with Neonatal Hemolytic Anemia;Hemoglobin;2020-01-02
3. A Novel -72 (T→A)β-Promoter Mutation Causing Slightly Elevated HbA2in a Vietnamese Heterozygote;BioMed Research International;2017
4. Neonatal Cyanosis Due to Hemoglobin Variant: Hb F-Sarajevo;Journal of Pediatric Hematology/Oncology;2016-10
5. The New -474(C→T) Substitution Discovered in the HBG2 Promoter of a Sardinian δβ-Thalassemia Carrier;Acta Haematologica;2016
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