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 substitution of arginine to threonine at position 40 of the β-globin protein. This amino acid substitution involves the α1β2 contact and occurs at the same position as Hb Austin [β40(C6)Arg→Ser; HBB: c.[123G>C or 123G>T] (p.Arg41Ser)] and Hb Athens-GA [β40(C6)Arg→Lys; HBB: c.122G>A (p.Arg41Lys)], both of which show increased oxygen affinity.
Original language | English (US) |
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Pages (from-to) | 204-206 |
Number of pages | 3 |
Journal | Hemoglobin |
Volume | 43 |
Issue number | 3 |
DOIs | |
State | Published - May 4 2019 |
Keywords
- HBB
- Hemoglobinopathy
- oxygen affinity
- β-Globin variant
ASJC Scopus subject areas
- Hematology
- Genetics(clinical)
- Clinical Biochemistry
- Biochemistry, medical