Hb Athens-Georgia (beta 40(C6) Arg > Lys, HBB:c.122G > A) with a single α-globin gene (Hb H disease) in a Thai family: molecular, hematological, and diagnostic aspects
Sign Up to like & getrecommendations! Published in 2020 at "Scandinavian Journal of Clinical and Laboratory Investigation"
DOI: 10.1080/00365513.2020.1852598
Abstract: Abstract Interaction of structural hemoglobin (Hb) variants with α- or β-globin defects are occasional in Southeast Asia. Herein we provide the first description of Hb Athens-Georgia (Hb A-Ga) in association with deletional Hb H disease,… read more here.
Keywords: globin gene; hbb 122g; disease; thai family ... See more keywords
Hb Alcorn County: A β-Globin Variant [β40(C6)Arg→Thr; HBB: c.122G>C (p.Arg41Thr)] with Increased Oxygen Affinity
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DOI: 10.1080/03630269.2019.1649279
Abstract: Abstract We describe Hb Alcorn County, a heterozygous hemoglobin (Hb) variant, in a 6-month-old Hispanic male and his mother. DNA sequencing demonstrated a mutation on the HBB gene [β40(C6)Arg→Thr; HBB: c.122G>C (p.Arg41Thr)], predictive of a… read more here.
Keywords: thr hbb; arg thr; hbb 122g; alcorn county ... See more keywords