Abstract
We have determined the structural abnormality of a putative Hb E detected in an African-American family with no apparent Asian ancestry. The tryptic peptide map performed by high performance liquid chromatography showed that the electrophoretic variant was indeed Hb E [β 26 (B8)Glu→Lys]. In addition, the tryptic map showed an abnormal peptide adjacent to the αT-6 peptide. The amino acid analysis and confirmatory restriction analysis of the DNA showed that a second mutation was also present, characterized by a substitution of arginine for lysine at residue 56 of the a chain. The variant is clinically silent and has been named Hb Port Huron for the city in Michigan where the family resides.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 381-391 |
| Number of pages | 11 |
| Journal | Hemoglobin |
| Volume | 15 |
| Issue number | 5 |
| DOIs | |
| State | Published - 1991 |
| Externally published | Yes |
ASJC Scopus subject areas
- Hematology
- Genetics(clinical)
- Clinical Biochemistry
- Biochemistry, medical
- Biochemistry