Abstract
Hemoglobin Monroe (β globin G->C, codon 30) is a missense mutation. We could not detect either the mutant peptide or transcript in reticulocyte-enriched preparation and in expanded erythroid progenitor cells. By quantitative gene expression assay β globin mRNA was found to be reduced by more than 70% in all heterozygous subjects with different haplotypes. We conclude that this mutation also interferes with expression of wild type allele.
Original language | English (US) |
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Pages (from-to) | 1715-1716 |
Number of pages | 2 |
Journal | Haematologica |
Volume | 92 |
Issue number | 12 |
DOIs | |
State | Published - Dec 2007 |
ASJC Scopus subject areas
- Hematology