Abstract
Hemoglobin variants with two amino acid substitutions affecting one globin chain are relatively rare. Hb T-Cambodia, a doubly substituted β- globin variant, was characterized previously by amino acid sequencing as having sequence alterations in β26(β8)Glu→Lys and β121(GH4)Glu→Gln (1). It is a variant that migrates cathodic to Hb A2 on alkaline electrophoresis and with Hb A on acid citrate agar electrophoresis. We report here the mutations of Hb T-Cambodia at the nucleotide level using DNA sequencing, in β-globin gene codon 121 (GAA→CAA) and in codon 26 (GAG→AAG). These are the mutations of Hb D-Punjab and Hb E, respectively.
Original language | English (US) |
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Pages (from-to) | 205-218 |
Number of pages | 14 |
Journal | Hemoglobin |
Volume | 21 |
Issue number | 3 |
DOIs | |
State | Published - 1997 |
ASJC Scopus subject areas
- Hematology
- Genetics(clinical)
- Clinical Biochemistry
- Biochemistry, medical