TY - JOUR
T1 - Hb F-Wentzville [Gγ24(B6)Gly→Glu; HBG2
T2 - c.74G>A, p.Gly25Glu]: An Unstable Gγ-Globin Variant Associated with Neonatal Hemolytic Anemia
AU - Semkiu, Katarina M.
AU - Oliveira, Jennifer L.
AU - Nguyen, Phuong L.
AU - Porter, Tavanna R.
AU - Wilson, David B.
N1 - Publisher Copyright:
© 2020, © 2020 Informa UK Limited, trading as Taylor & Francis Group.
PY - 2020/1/2
Y1 - 2020/1/2
N2 - A novel unstable Gγ-globin variant, Hb F-Wentzville [Gγ24(B6)Gly→Glu; HBG2: c.74G>A, (p.Gly25Glu)], was identified in a young infant who required a single transfusion of erythrocytes for hemolytic anemia. This is the first reported γ-globin variant affecting the highly conserved glycine residue at helical position B6. In the tertiary structure of hemoglobin (Hb), glycine at B6 is in close proximity to another invariant glycine residue at E8. Prior studies have shown that replacement of the B6 or E8 glycine residues with bulkier amino acids disrupts packing between the B and E helices, resulting in Hb instability. Thus, Hb F-Wentzville is analogous to the following unstable β-globin B6 variants: Hb Savannah (HBB: c.74G>T, p.Gly24Val), Hb Riverdale-Bronx (HBB: c.73G>C, p.Gly24Arg), and Hb Moscva (HBB: c.74G>A, p.Gly24Asp).
AB - A novel unstable Gγ-globin variant, Hb F-Wentzville [Gγ24(B6)Gly→Glu; HBG2: c.74G>A, (p.Gly25Glu)], was identified in a young infant who required a single transfusion of erythrocytes for hemolytic anemia. This is the first reported γ-globin variant affecting the highly conserved glycine residue at helical position B6. In the tertiary structure of hemoglobin (Hb), glycine at B6 is in close proximity to another invariant glycine residue at E8. Prior studies have shown that replacement of the B6 or E8 glycine residues with bulkier amino acids disrupts packing between the B and E helices, resulting in Hb instability. Thus, Hb F-Wentzville is analogous to the following unstable β-globin B6 variants: Hb Savannah (HBB: c.74G>T, p.Gly24Val), Hb Riverdale-Bronx (HBB: c.73G>C, p.Gly24Arg), and Hb Moscva (HBB: c.74G>A, p.Gly24Asp).
KW - Fetal hemoglobin (Hb F)
KW - hemoglobinopathy
KW - hemolytic anemia
KW - tertiary structure
KW - unstable γ variant
UR - http://www.scopus.com/inward/record.url?scp=85078492587&partnerID=8YFLogxK
U2 - 10.1080/03630269.2020.1716002
DO - 10.1080/03630269.2020.1716002
M3 - Article
C2 - 31985299
AN - SCOPUS:85078492587
SN - 0363-0269
VL - 44
SP - 67
EP - 69
JO - Hemoglobin
JF - Hemoglobin
IS - 1
ER -